View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
LOVD - Variant listings for RB1

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

3394 public entries
entries per page

Path. Hide Path. column Descending
Ascending
g-position Hide g-position column Descending
Ascending
cDNA change   Descending
Ascending
Type Hide Type column Descending
Ascending
Exon Hide Exon column Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
RBWiki Hide RBWiki column Descending
Ascending
expected consequence type Hide expected consequence type column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
originated_in Hide originated_in column Descending
Ascending
Patient ID Hide Patient ID column Descending
Ascending
Phenotype Hide Phenotype column Descending
Ascending
Mut. origin Hide Mut. origin column Descending
Ascending
Tissue Hide Tissue column Descending
Ascending
Template Hide Template column Descending
Ascending
tumor-genotype Hide tumor-genotype column Descending
Ascending
family history Hide family history column Descending
Ascending
Reference Hide Reference column Descending
Ascending
# Reported Hide # Reported column Descending
Ascending
Published Hide Published column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
+/+ g.156717T>G c.1985T>G Substitution 20_ex - p.Leu662Arg - missense RB1_02102 germline E0250 bilateral rb unknown blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.156706del[c.1974^c.1980]c.1985insT c.[1985dup;1974_1980del] complex 20_ex - p.Tyr659GlyfsX1 - frameshift RB1_00238 - Nip unilateral rb germline blood DNA not reported isolated Cowell et al., 1996 1 published -
?/+ g.156719_156726del c.1987_1994del deletion 20_ex - p.(Asn663Leufs*2) - frameshift RB1_00302 germline E1243 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
+/+ g.156720del c.1988del Substitution 20_ex - - - frameshift RB1_01389 - E5373 bilateral rb unknown blood DNA - isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.156720ins19 c.1988ins19 Insertion/Deletion 20_ex - - - frameshift RB1_01502 somatic Rb16 unilateral rb somatic tumor DNA - isolated Ata-ur-Rasheed et al. (2002) Ophthalmic Genet.(2):121-8. 1 published -
?/? g.156722_156723AACA c.1990_1991insAACA Insertion 20_ex - - - frameshift RB1_01750 somatic ng_un_is_tu_428 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.156724delAC c.1992delAC Deletion 20_ex - - - frameshift RB1_01674 somatic ge_uni_iso_tu_3 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.156724ins7 c.1992_1993ins7 insertion 20_ex - - - - RB1_00908 - Fam881 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.156726T>C c.1994T>C substitution 20_ex - p.Leu665Pro - missense RB1_00636 - not provided bilateral rb germline blood DNA - familial Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.156726T>C c.1994T>C substitution 20_ex - p.Leu665Pro - missense RB1_00636 unknown Tab_1_34 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.156727_156728del c.1995_1996del Deletion 20_ex - - - frameshift RB1_01642 germline bilateral_406 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.156728dup c.1996dup insertion 20_ex - p.Cys666Leufs*2 - frameshift RB1_01207 unknown CO320 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.156730_156731del c.1998_1999del deletion 20_ex - p.(Cys666*) - frameshift RB1_00253 somatic E1299 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.156743_156746del c.2011_2014del deletion 20_ex - p.Glu672Thrfs*4 - frameshift RB1_01380 unknown F6; pt# 12 unilateral rb/retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/+ g.156745dup c.2013dup insertion 20_ex - p.(Glu672*) - frameshift RB1_00150 unknown S.T. bilateral rb germline blood DNA not reported familial Hogg et al., 1992 1 published -
?/? g.156746G>T c.2014G>T Substitution 20_ex - p.Glu672X - nonsense RB1_01752 somatic ng_un_is_tu_427 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.156749C>G c.2017C>G Substitution 20_ex - p.His673Asp - unknown RB1_01582 unknown rs79200171 - - nd DNA - - dbSNP 1 published -
?/? g.156750A>C c.2018A>C substitution 20_ex - p.His673Pro - missense RB1_00151 - LuC104C other tumor somatic LuAdenoSquamoCa DNA - - Sachse et al., 1994 1 published -
?/+ g.156754del c.2022del deletion 20_ex - p.Glu675Asnfs*2 - frameshift RB1_00559 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.156755G>T c.2023G>T substitution 20_ex - p.Glu675X - nonsense RB1_00020 - RBF18 rb germline blood DNA - familial Onadim et al., 1992 1 published -
?/+ g.156755G>T c.2023G>T substitution 20_ex - p.Glu675X - nonsense RB1_00020 - Fam724 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.156759T>G c.2027T>G substitution 20_ex - p.Leu676X - nonsense RB1_00951 - Fam180 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156759_156768del c.2027_2036del Deletion 20_ex - p.(Leu676Serfs*17) - frameshift RB1_02079 germline P_20140723_369 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.156760_156772del c.2028_2040del deletion 20_ex - p.Leu676Phefs*16 - frameshift RB1_00152 unknown RERF-LC-FM other tumor - SCLC cell line DNA - - Kashii et al., 1994 1 published -
?/? g.156761delG c.2029delG Deletion 20_ex - - - unknown RB1_01458 - nd retinoblastoma unknown Blood DNA unknown - Ahani et al.(2011) Cancer Genet.; 204(6):316-22, Iran:Tehran 1 published -
?/? g.156761G>T c.2029G>T Substitution 20_ex - p.(Glu677*) - nonsense RB1_01911 unknown Supp_Tab_Mt-87 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.156763del c.2031del deletion 20_ex - p.Glu677Aspfs*19 - frameshift RB1_00560 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
+/+ g.156763del c.2031del deletion 20_ex - p.Glu677Aspfs*19 - frameshift RB1_00560 unknown Case No. 23 other cancer somatic tumor RNA hemi/homozygous unknown Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5. 1 published bladder cancer
?/? g.156763dupA c.2031dupA Duplication 20_ex - p.(His678Thrfs*14) - frameshift RB1_01912 unknown Supp_Tab_Mt-88 - - nd DNA - - Price et al., 2013 1 published -
?/? g.156765del c.2033del Deletion 20_ex - p.(His678Leufs*18) - frameshift RB1_02080 germline P_20140723_385 bilateral rb germline blood DNA unknown familial Houdayer - Paris 1 unpublished -
?/+ g.156767_156768dup c.2035_2036dup insertion 20_ex - - - frameshift RB1_00452 germline E3031 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
+/? - c.2037_2106+1del Deletion 20_ex - p.Ile680Leufs*2 - frameshift RB1_01988 somatic supp_table_1_30 retinoblastoma somatic blood, tumour DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published Previously reported in Mol et al. 2014
?/+ g.156769_156784dup c.2039_2054dup insertion 20_ex - p.Gln685Hisfs*12 - frameshift RB1_00154 unknown E493 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.156774G>A c.2042G>A substitution 20_ex - p.Trp681X - nonsense RB1_00964 - Fam344 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
+/+ g.15677gG>A c.2043G>A Substitution 20_ex - p.Trp681* - nonsense RB1_01859 somatic E5975 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 - -
?/? g.156775G>A c.2043G>A Substitution 20_ex - p.(Trp681*) - nonsense RB1_01913 unknown Supp_Tab_Mt-89 - - nd DNA - - Price et al., 2013 1 published -
?/? g.156779insT c.2047insT Insertion 20_ex - - - unknown RB1_01748 somatic ng_un_is_tu_415 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.156783del c.2051del deletion 20_ex - p.(Phe684Serfs*12) - frameshift RB1_00153 unknown G6 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1992 1 published -
?/? g.156783del c.2051del deletion 20_ex - p.(Phe684Serfs*12) - frameshift RB1_00153 somatic S83101 other cancer somatic nd DNA - - COSMIC - COSM918 1 published -
?/? g.156783dup c.2051dup insertion 20_ex - - - - RB1_00890 - Fam365 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.156785C>T c.2053C>T substitution 20_ex - p.Gln685X - frameshift RB1_01334 - fRB44 bilateral rb germline retinoblastoma DNA - isolated Najera et al. (2001) Med Clin (Barc) 116: 365 1 published -
?/? g.156785C>T c.2053C>T substitution 20_ex - p.Gln685X - frameshift RB1_01334 somatic ECC10 other cancer somatic nd DNA - - COSMIC - COSM13117 1 published -
?/? g.156786A>C c.2054A>C substitution 20_ex - p.Gln685Pro - missense RB1_00155 - RB380 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/? g.156786A>C c.2054A>C substitution 20_ex - p.Gln685Pro - missense RB1_00155 - Fam158 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.156786A>C c.2054A>C substitution 20_ex - p.Gln685Pro - missense RB1_00155 - fRB49 bilateral rb germline blood DNA - familial Najera et al. (2001) Med Clin (Barc) 116: 365 1 published -
+/? - c.2055_2056del Deletion 20_ex - p.Thr687Profs*4 - frameshift RB1_01989 germline fam-no_20071749 retinoblastoma germline blood DNA unknown familial Dommering et al. 2014, Germany:Essen 1 published Previously reported in Dommering et al. 2012
?/? g.156787_156795del c.2055_2063del deletion 20_ex - p.His686_Leu688del - in-frame RB1_00236 germline E956 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
+/+ g.156789_156812del c.2057_2080del Deletion 20_ex - p.His686_Glu693del - in-frame RB1_01871 somatic E6197 retinoblastoma somatic blood and tumor DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.156790_156798del c.2058_2066del deletion 20_ex - - - in-frame RB1_00476 unknown E3215 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.156790_156798del c.2058_2066del
    + c.1072C>T		 deletion 20_ex - - - in-frame RB1_00476 germline E3215 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.156791_156794del c.2059_2062del Deletion 20_ex - p.(Thr687Cysfs*8) - frameshift RB1_02081 germline P_20140723_388 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.156792del c.2060del deletion 20_ex - - - frameshift RB1_00840 - Fam351 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156793C>T c.2061C>T Substitution 20_ex - - - unknown RB1_01823 unknown rs113432974 - unknown nd DNA - - dbSNP 1 published -
?/? g.156795T>C c.2063T>C substitution 20_ex - p.Leu688Pro - missense RB1_00405 - HC22 unilateral rb germline retinoblastoma DNA - isolated Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/? g.156795T>C c.2063T>C substitution 20_ex - p.Leu688Pro - missense RB1_00405 - E4209 - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.156795T>G c.2063T>G substitution 20_ex - p.Leu688Arg - - RB1_01240 - 38 bilateral rb germline blood DNA - familial Abouzeid et al. (2007) Mol Vis 13: 1740 1 published Mutation not present in 100 normal chromosomes
?/+ g.156797C>T c.2065C>T substitution 20_ex - p.Gln689X - nonsense RB1_00942 - Fam684 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.156797C>T c.2065C>T substitution 20_ex - p.Gln689X - nonsense RB1_00942 - Fam842 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.156797ins[156698C>A^156797] c.2065_2066ins100 complex 20_ex - p.Asn690AlafsX10 - frameshift RB1_00156 - E488 unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.153801A>G c.2069A>G substitution 20_ex - p.Asn690Ser - - RB1_01197 - 0873 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.156804del c.2072del deletion 20_ex - p.(Glu691Glyfs*5) - frameshift RB1_00760 unknown 21b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.156804del c.2072del deletion 20_ex - p.(Glu691Glyfs*5) - frameshift RB1_00760 unknown 21b rb germline nd DNA - - JL Gala - Brussels 1 unpublished -
?/+ g.156804_156807del c.2072_2075del deletion 20_ex - p.Glu691Valfs*4 - frameshift RB1_00784 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
+?/? g.156803 c.2073G>T Substitution 20 - p.E691X - nonsense RB1_01440 - 515 bilateral rb germline blood DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
+/? g.156803G>T c.2073G>T Substitution 20 - - - nonsense RB1_01440 germline 515 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.156805_156806dup c.2073_2074dup Insertion 20_ex - p.(Tyr692Cysfs*5) - frameshift RB1_02082 germline P_20140723_396 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.156806_156824dup c.2074_2092dup Insertion 20_ex - p.(Arg698Ilefs*2) - frameshift RB1_02083 germline P_20140723_375 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.156809del c.2077del Deletion 20_ex - p.(Glu693Asnfs*3) - unknown RB1_01401 unknown Case no.5 other cancer somatic tumor RNA heterozygous unknown Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5. 1 published bladder cancer
?/? g.156809del c.2077del Deletion 20_ex - p.(Glu693Asnfs*3) - unknown RB1_01401 somatic 894652 other cancer somatic nd DNA - - COSMIC - COSM858 1 published -
?/? g.156809G>T c.2077G>T Substitution 20_ex - p.Glu693X - nonsense RB1_01749 somatic ng_un_is_tu_417 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.156809_156812dup4 c.2077_2080dup4 Duplication 20_ex - p.(Leu694Argfs*28) - frameshift RB1_01914 unknown Supp_Tab_Mt-90 - - nd DNA - - Price et al., 2013 1 published -
-?/? g.156812 c.2080_2081insCCTGCAGAACACCCTGCAGAA Insertion 20 - P.693insPAEHPAE - in-frame RB1_02113 germline 660 bilateral rb germline blood DNA unknown isolated Argentina:Buenos Aires 1 unpublished -
?/? g.156815_156816 c.2083_2084del Deletion 20_ex - p.Met695Glufs* - frameshift RB1_02014 somatic #733 unilateral rb somatic tumour DNA hemi/homozygous isolated Renieri - Siena 1 unpublished -
?/+ g.156816del c.2084del deletion 20_ex - p.Met695Argfs*10 - frameshift RB1_00157 unknown E571T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.156816T>G c.2084T>G Substitution 20_ex - p.Met695Arg - unknown RB1_01643 germline bilateral_407 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.156816T>A g.2084T>A Substitution 20_ex - p.Met695Lys - unknown RB1_01644 germline bilateral_411 bilateral rb germline blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.156819_156822dup c.2087_2090dup insertion 20_ex - - - frameshift RB1_00235 germline E917 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.156819_156822del c.2087_2091del deletion 20_ex - - - frameshift RB1_00585 - 20b bilateral rb germline blood DNA - familial - 1 published -
?/+ g.156819_156823del c.2087_2091del deletion 20_ex - p.(Arg696Lysfs*23) - frameshift RB1_00759 unknown 20b* rb germline nd DNA - familial JL Gala - Brussels 1 unpublished -
?/+ g.156820del c.2088del deletion 20_ex - p.Asp697Thrfs*8 - frameshift RB1_00158 unknown Rb8 bilateral rb germline blood DNA not reported isolated Szijan et al., 1994 1 published -
?/+ g.156821_156822del c.2089_2090del deletion 20_ex - p.Asp679Glnfs*23 - frameshift RB1_01234 unknown F5370 bilateral rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.156823C>G c.2091C>G substitution 20_ex - variant - variant RB1_01058 - not provided no cancer germline blood DNA - - dbSNP 1 published originally reported; Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.156823C>G c.2091C>G substitution 20_ex - variant - variant RB1_01058 unknown rs3092903 - - nd DNA - - dbSNP 1 published -
+/+? g.156824A>T c.2092A>T Substitution 20_ex - p.Arg698Trp - missense RB1_01393 - Dox111 other cancer somatic tumor RNA unknown unknown Berge et al. (2010) Mol Cancer. 2010 Jul 1;9:173. 1 published isolated breast cancer
?/? g.156824dup c.2092dup Insertion 20_ex - p.(Arg698Lysfs*23) - frameshift RB1_02084 germline P_20140723_393 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
+/+ g.156825_156828del c.2093_2096del Deletion 20_ex - - - frameshift RB1_01442 - E5509 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
+/+ g.156827del c.2095del Substitution 20_ex - p.His699Ilefs*6 - frameshift RB1_01867 germline E6158 bilateral rb germline blood DNA hemi/homozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.156827_156830del c.2095_2098del deletion 20_ex - - - frameshift RB1_00841 - Fam640 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.156828dup c.2096dup insertion 20_ex - - - frameshift RB1_00842 - Fam873 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
+?/? 13: 49033826 c.2100_2101insT Insertion 20 - - - frameshift RB1_01864 somatic PICR-RB1-M2 other cancer somatic SCLC mouse model DNA unknown unknown United Kingdom (Great Britain):Manchester 1 unpublished Will be published, link will be added once available Tissue is a mouse tumour from explanted SCLC circulating tumour cells. Mutation is insertion of a single T near the start of exon 20, predicted to cause a premature stop codon in exon 20 leading to a severe truncation of the B domain and cyclin domains essential for RB1 function. Similar truncations have been described in sporadic and familial human retinoblastoma
?/? g.156836C>A c.2104C>A substitution 20_ex Splice p.Gln702Lys - missense-splice RB1_00292 - Fam446 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156836C>A c.2104C>A substitution 20_ex Splice p.Gln702Lys - missense-splice RB1_00292 - E1019 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.156836C>A c.2104C>A substitution 20_ex Splice p.Gln702Lys - missense-splice RB1_00292 - Fam706 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.156836C>A c.2104C>A substitution 20_ex Splice p.Gln702Lys - missense-splice RB1_00292 somatic TCGA-13-1489 other cancer somatic tumor DNA - - COSMIC - COSM76180 1 published probably damaging / deleterious
?/+ g.156836C>T c.2104C>T substitution 20_ex - p.Gln702X - nonsense RB1_00380 somatic E4909 bilateral rb somatic tumor DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.156836C>T c.2104C>T substitution 20_ex - p.Gln702X - nonsense RB1_00380 somatic HT-1376 other cancer somatic nd DNA - - COSMIC - COSM22911 1 published -
?/? g.156836_156840delins26 c.2104_2106+2delins26 complex 20_ex - - - - RB1_01330 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.156837A>G c.2105A>G substitution 20_ex RT-PCR p.Gln702Arg - missense-splice RB1_00275 - Fam517 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156837A>G c.2105A>G substitution 20_ex RT-PCR p.Gln702Arg - missense-splice RB1_00275 - E1292 bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.156837_156840del c.2105_2108del deletion 20_ex altered splicing - - splice RB1_01318 - 8 bilateral rb germline blood DNA - isolated Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
2701 - 2800
[<<] [<-] ... 23 24 25 26 27 28 29 30 31 32 33 ... [->] [>>]

Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

Please help to improve the quality of the data and report any error that you may find!

  Powered by LOVD v.2.0 Build 34
Enabled modules: mutalyzer, recaptcha, showmaxdbid
©2004-2012 Leiden University Medical Center