LOVD - Variant listings for RB1

About this overview [Show]

3363 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.195insCTGATA c.-1865_1864insCTGATA complex 00_up - variant - variant RB1_00991 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.198del c.-1862del deletion 00_up - variant - variant RB1_00992 - not provided no cancer germline blood DNA - - dbSNP 1 published Originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.371C>A c.-1689C>A substitution 00_up - variant - variant RB1_00993 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.605T>C c.-1455T>C substitution 00_up - variant - variant RB1_00994 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.605T>C c.-1455T>C substitution 00_up - variant - variant RB1_00994 germline not provided - unknown blood DNA unknown unknown dbSNP 1 - -
?/? g.914C>T c.-1146C>T substitution 00_up - variant - variant RB1_00995 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.1023G>A c.-1037G>A substitution 00_up - variant - variant RB1_00996 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.1219C>T c.-841C>T substitution 00_up - variant - variant RB1_00997 - not provided no cancer germline blood DNA - - dbSNP 1 published originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.1282C>T c.-778C>T substitution 00_up - variant - variant RB1_00998 - not provided no cancer germline blood DNA - - dbSNP 1 published originally published: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.1328A>C c.-732A>C substitution 00_up - variant - variant RB1_00999 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.1409A>G c.-651A>G substitution 00_up - variant - variant RB1_01000 - not provided no cancer germline blood DNA - - dbSNP 1 published originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.1565T>C c.-495T>C substitution 00_up - - - - RB1_01350 - not provided unilateral rb germline blood DNA - - - 1 unpublished -
?/? g.1565T>C c.-495T>C substitution 00_up - - - - RB1_01350 - not provided unilateral rb germline blood DNA - familial lp - 1 unpublished -
?/? g.1601C>T c.-459C>T substitution 00_up - variant - variant RB1_01001 - not provided no cancer germline blood DNA - - dbSNP 1 published originally reported by Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.1718C>T c.-342C>T substitution 00_up - variant - variant RB1_00953 - Fam539 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto rs4151418 1 unpublished -
?/? g.1766T>C c.-294T>C Substitution 00_up regulatory - - unknown RB1_01670 germline unilat_fam_29 unilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
-?/? g.1772C>T c.-288C>T Substitution 00_up regulatory - - unknown RB1_01855 unknown family 2136 bilateral rb unknown nd DNA - isolated Gallie:Toronto 1 unpublished -
?/? g.1811_1913del c.-249_147del deletion 00_up - - - - RB1_01304 - tumor 7 other cancer somatic prostate carcinoma cells DNA heterozygous - Bookstein et al., 1990 1 published prostate carcinoma
?/? g.1848G>A c.-212G>A substitution 00_up - - - promoter RB1_00926 - Fam35 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.1854_1871del c.-206_-189del deletion 00_up - - - - RB1_00927 - Fam384 bilateral rb germline nd DNA - not reported Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - family 229 rb germline blood DNA not reported familial lp Sakai et al., 1991 1 published -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - 3 unilateral rb germline blood DNA not reported isolated Zajaczek et al., 1998 1 published -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - E635 bilateral rb germline blood DNA unknown familial Lohmann - Essen 1 unpublished -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - E1696 - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - case 3 unilateral rb germline blood DNA - isolated Zajaczek et al. (1999) Eur J Cancer 35(13):1824 1 published -
?/? g.1863G>A c.-197G>A substitution 00_up - - - promoter RB1_00928 - Fam550 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.1863_1864delinsTT c.-197_-196delinsTT complex 00_up - SP1-recogn - promoter RB1_00470 germline E2836 bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.1867T>A c.-193T>A substitution 00_up - promotor - promoter RB1_01326 - F4289 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.1867T>G c.-193T>G substitution 00_up - - - promoter RB1_01294 - F5768 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.1871G>T c.-189G>T substitution 00_up - ATF-recognition - promoter RB1_00017 - family 172 unilateral rb germline blood DNA not reported familial lp Sakai et al., 1991 1 published -
?/? g.1871G>T c.-189G>T substitution 00_up - ATF-recognition - promoter RB1_00017 - Fam36 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.1910G>C c.-150G>C substitution 00_up - SP1-recognition - promoter RB1_00022 - family S rb germline blood DNA not reported familial lp Cowell et al., 1996 1 published -
?/? g.2056C>G c.-4C>G substitution 00_up - - - - RB1_01370 - not provided bilateral rb germline blood DNA - isolated Barbosa et al. (2009), BMC Med Genet; 10: 75. 1 published -
?/? g.2060A>G c.1A>G Substitution 01_ex - p.Met1Val Met1Val unknown RB1_01443 - 11 retinoblastoma - blood DNA - familial - 1 unpublished Caucasion patient, Father affected
?/? g.2060A>G c.1A>G Substitution 01_ex - p.Met1Val Met1Val unknown RB1_01443 - 1576 unilateral rb germline blood DNA - - - 1 unpublished No tumor. Destroys translation initiation codon. Unilaterally affected father (proband) and very young son (unknown phenotype) carry mutation in blood
?/? g.2062G>C c.3G>C Substitution 01_ex - p.Met1Ile [Met1Ile] unknown RB1_01455 - nd retinoblastoma - nd DNA - familial low penetrance - 1 - Found in low penetrance rb family: 2 unilateral rb and 4 unaffected carriers
+/+ - c.14_24del Deletion 01_ex - p.Thr5Asnfs*22 - frameshift RB1_01961 germline fam-no_19931734 retinoblastoma germline blood DNA unknown familial Dommering et al. 2014, Germany:Essen 1 published Incomplete penetrance (DER: 1.0)
?/+ g.2077_2095del c.18_36del deletion 01_ex - - - frameshift RB1_00834 - Fam672 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.2078del c.19C>T Substitution 01_ex - p.Arg7X - nonsense RB1_01672 germline ge_uni_iso_tu_2 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.2078del c.19del deletion 01_ex - - - frameshift RB1_01208 - SR25 unilateral rb germline blood DNA - isolated Kontic et al. (2006) J Hum Genet 51:909 1 published -
?/? g.2078delCGAinsGG c.19delCGAinsGG Other/Complex 01_ex - - - frameshift RB1_01667 germline unilat_fam_2 unilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 - Fam393 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 - Fam805 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 - 11050 bilateral rb unknown nd DNA unknown - Munier - Lausanne 1 - Mutation not found in parents or brother
+/? g.2078dup c.19dup Duplication 01_ex - p.(Arg7Profs*24) - frameshift RB1_00449 germline RB45 unilateral rb germline blood DNA - familial mohdkhairulnizam, Malaysia:Kuala Lumpur 1 published -
?/+ g.2078_2080delinsGG c.19_21delinsGG complex 01_ex - - - frameshift RB1_00839 - Fam462 unilateral rb somatic retinoblastoma DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.2078_2080delinsGG c.19_21delinsGG complex 01_ex - - - frameshift RB1_00839 germline nd no cancer germline blood DNA - - - 1 - Unaffected carrier. Three generations of family have Rb
?/+ g.2079dup c.20dup insertion 01_ex - p.(Thr9Asnfs*22) - frameshift RB1_00340 germline E2335 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.2080dup c.20dup insertion 01_ex - - - frameshift RB1_00849 - Fam728 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.2080insG c.21insG Insertion 01_ex - - - frameshift RB1_01583 germline bilateral_8 bilateral rb germline blood DNA heterozygous isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.2083_2114del c.24_55del deletion 01_ex - - - frameshift RB1_00858 - Fam82 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/-? g.2090_2092dupGCC c.31_33dupGCC Duplication 01_ex - p.Ala11dup Ala11dup unknown RB1_01447 - 1275 unilateral rb - blood DNA - - - 1 unpublished Tumor shows homozygous IVS22+1G>T (c.2325+1G>T), not in blood. Blood has hetero c.31_33dupGCC ; tumor does not
+/+ g.2091_2122del c.32_63del Deletion 01_ex - p.(Ala11Glyfs*9) - frameshift RB1_00724 somatic E5712 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
+/+ g.2091_2122del c.32_63del Deletion 01_ex - p.(Ala11Glyfs*9) - frameshift RB1_00724 germline E3962 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.2099dup c.40dup Insertion 1_ex - p.(Ala14Glyfs*17) - frameshift RB1_02017 germline P_20140723_20 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - GOS19 unilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - 156 unilateral rb - blood DNA - - - 1 unpublished Hetero in blood. No tumor available. Previously found by DL in uni proband and father?s blood but not in homozygous tumor; CD found this in two bilateral patients with known null mutations.
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - nd bilateral rb - nd DNA - familial - 1 - Remarks: see RBWiki
?/? g.2102_2124del c.43_65del deletion 01_ex - - - - RB1_01336 - RB-203/fRB-35 unilateral rb germline blood DNA - familial Sanchez-Sanchez et al. (2007) Hum Mutat 28: 159 1 published -
?/? g.2104ins23 c.45_46ins23 insertion 01_ex - - - - RB1_00864 - Fam362 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
-/- g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del [Ala16_Ala18del] in-frame RB1_00957 - Fam436 unilateral rb germline retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
-/- g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 - FAM36 unilateral rb - blood DNA unknown familial not reported, BL Gallie - Toronto 1 unpublished The 9bp exon 1 del did not segregate with disease in family
-/- g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 - Fam910 unilateral rb germline blood + tumor DNA unknown isolated not reported, BL Gallie - Toronto 1 unpublished Tumor results: Homozy. IVS1+2T>A, Homoz c.45_53del Blood: Het c.45_53del only
?/? g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 - Fam1085 unilateral rb - blood DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
-/- g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del - in-frame RB1_00957 - Fam1153 unilateral rb - blood DNA - isolated not reported, BL Gallie - Toronto 1 - Tumor did not show the c.45-53del but showed homozygous promoter hypermethylation
-/- g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 - Fam1187 unilateral rb - blood + tumor DNA heterozygous isolated not reported, BL Gallie - Toronto 1 unpublished Tumor showed het IVS19-1G>C and het c.1981C>T and het c.45_53del, blood and tumor showed hetero c.45_53del9
?/-? g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 - nd unilateral rb - nd DNA - isolated - 1 - Remarks. see RBWiki
?/+ g.2104_2129del c.45_70del deletion 01_ex - p.Glu19Profs*3 - frameshift RB1_00318 germline E2076 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.2104_2032del c.45_73del Deletion 1_ex - p.(Ala18Profs*3) - unknown RB1_02019 germline P_20140723_27 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
+/+ g.2104_2135del c.45_76del Deletion 01_ex - p.Ala17Profs*3 - frameshift RB1_01409 unknown E5365 unilateral rb germline blood DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.2104_2138dup c.45_78dup insertion 01_ex - p.Pro27Cysfs*15 - frameshift RB1_01324 unknown F3148 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.2104_2139del c.45_79del deletion 01_ex - - - frameshift RB1_00422 germline E2882 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.2104_2139del c.45_79del deletion 01_ex - - - frameshift RB1_00422 somatic LB647-SCLC - somatic nd DNA - - COSMIC - COSM29200 1 - -
?/? g.2104_2038dup c.45_79dup Insertion 1_ex - p.(Pro27Leufs*50) - unknown RB1_02018 germline P_20140723_22 unilateral rb germline blood DNA unknown familial Houdayer - Paris 1 unpublished -
+/? - c.46_65dup Duplication 01_ex - p.Pro25Argfs*47 - frameshift RB1_01962 germline fam-no_20011821 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/+ g.2106_2125del c.47_66del deletion 01_ex - - - frameshift RB1_00563 - not provided unilateral rb somatic retinoblastoma DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
-?/- g.2111_2139dup c.52_80dup Duplication 01_ex - - - unknown RB1_01775 germline ge_un_is_notu3 no cancer germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/+ g.2113_2135del c.54_76del Deletion 01_ex - p.(Glu19Alafs*4) - frameshift RB1_01858 somatic E5961 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.2113_2135dup c.54_76dup Insertion 1_ex - p.(Pro26Argfs*47) - unknown RB1_02020 germline P_20140723_33 unilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.2113_2138del c.54_79del deletion 01_ex - p.(Glu19Profs*3) - frameshift RB1_00360 germline E2147 unilateral rb germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/+ g.2114del c.55del deletion 01_ex - p.Glu19Asnfs*46 - frameshift RB1_01209 unknown F5701 rb germline blood DNA - familial lp Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.2117delC c.58delC Deletion 01_ex - - - frameshift RB1_01666 germline unilat_fam_1 unilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 - not provided unilateral rb germline blood DNA - isolated Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 - 2u unilateral rb germline blood DNA - familial lp Brichard et al. 2006,Eur J Cancer. 2006 Jan;42(1):65-72 1 published -
?/? g.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 - BG#519 (619) unilateral rb - nd DNA - isolated Richter et al. (2003) Am J Hum Genet. 2003 Feb; 72(2): 253-69 1 published Tumor w/ het c.2536insC, het. promoter methyl + het Pro20Leu, blood only Pro20Leu
?/? g.2118_2130del c.59_71del Deletion 01_ex - - - unknown RB1_01587 germline bilateral_16 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished unaff father carries mut
?/? g.2120_2133 c.61_74del Deletion 01_ex - p.Pro21Alafs*5 - frameshift RB1_01518 somatic CAL-85-1 - somatic nd DNA - - COSMIC - COSM27171 1 - -
?/+ g.2121del c.62del deletion 01_ex - p.Pro21Argfs*43 - frameshift RB1_00646 unknown Fam228 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.2121del c.62del deletion 01_ex - p.Pro21Argfs*43 - frameshift RB1_00646 unknown 12 unilateral rb germline blood DNA - familial Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
+/? - c.62dup Duplication 01_ex - p.Ala22Glyfs*9 - frameshift RB1_01963 germline fam-no_20061482 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published Previously reported in Dommering et al. 2012
?/? g.2121_2122insG c.64dup Insertion/Deletion 01_ex - p.Ala22Glyfs*9 - unknown RB1_01517 unknown rs34437965 - - nd DNA - - dbSNP 1 - -
?/? g.2124C>A c.65C>A substitution 01_ex - p.Ala22Glu Ala22Glu unknown RB1_01377 - not provided bilateral rb - retinoblastoma DNA heterozygous - - 1 unpublished -
?/+ g.2124del c.65del deletion 01_ex - p.Ala22Aspfs*43 - frameshift RB1_01362 unknown RB-68 bilateral rb germline blood DNA - - - 1 published -
?/+ g.2124delinsGA c.65delinsGA complex 01_ex - - - nonsense RB1_00463 germline E3372 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.2124_2125delins20 c.65_66ins20 Other/Complex 01_ex - - - unknown RB1_01586 germline bilateral_14 bilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished 2 bros affected, unaff parents not tested
?/+ g.2126_2163del c.67_104del deletion 01_ex - - - frameshift RB1_00448 germline E609 bilateral rb germline nd DNA hemi/homozygous familial Lohmann - Essen 1 unpublished -
?/-? g.2127C>T c.68C>T Substitution 01_ex - p.Pro23Leu [Pro23Leu] unknown RB1_01456 - nd unilateral rb - tumor + blood DNA - - - 1 - In tumour + blood DNA of unilateral patient and unaffected father, tumour has two other deleterious mutations not present in patient?s blood DNA
1 - 100
[<<] [<-] 1 2 3 4 5 6 ... [->] [>>]


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!