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]

978 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.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam387 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam528 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam600 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam602 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam674 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam712 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam809 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam75 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam794 unilateral rb somatic nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam868 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam962 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - 10b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - 1213 unilateral rb germline blood DNA - - Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - F5386 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - F5390 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - 13 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - RB-45 bilateral rb germline blood DNA - isolated - 1 published -
+?/? g.76460C>T c.1363C>T Substitution 14_ex - p.R455X - nonsense RB1_00096 unknown 507 bilateral rb germline blood DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 germline RB37 bilateral rb germline blood DNA - - Abidi et al. (2011) Mol Vis.;17:3541-7 1 published -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 somatic FM55M1 other cancer somatic nd DNA - - COSMIC - COSM895 1 - -
+/? g.76460C>T c.1363C>T Substitution 14_ex - - - nonsense RB1_00096 germline 507 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 germline RB45tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 germline RB48tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 germline #745 bilateral rb germline blood DNA unknown isolated Renieri - Siena 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455* - nonsense RB1_00096 germline #777 bilateral rb germline blood DNA unknown isolated Renieri - Siena 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 unknown Tab_1_9 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.76792C>T c.1390-97C>T substitution 14_in - variant - variant RB1_01110 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - RB127 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - G1001 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - G430 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - G496 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - KS-163 other tumor somatic osteosarcoma DNA homozygous - Wadayama et al., 1994 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E3T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E687T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E711T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - RB60 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided - - nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam44 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam235 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam481 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam493 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam145 bilateral rb somatic retinoblastoma DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E5108 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E1051 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E1142 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E1748 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E22 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E2570 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E2787 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - E3878 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided - - nd DNA hemi/homozygous not reported Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam221 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam121 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam495 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam610 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam622 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam880 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam431 unilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam635 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam807 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam410 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam442 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - 11b bilateral rb germline blood DNA - familial - 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - 12b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - 6 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - F4540 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - F2970 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - 14 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
+/? g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - IRB9 bilateral rb somatic Retinoblastoma Tumor DNA heterozygous isolated Iran:Tehran 1 - -
+/? g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - IRB10 bilateral rb germline Retinoblastoma Tumor DNA hemi/homozygous isolated Iran:Tehran 1 - -
?/? g.76898C>T c.1399C>T
    + c.951_954del		 substitution 15_ex - p.Arg467X - nonsense RB1_00099 germline E2276 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 somatic S81261 other cancer somatic nd DNA - - COSMIC - COSM866, Wadayama et al., 1994 1 published -
?/? g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 unknown Tab_1_10 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/+ g.76910C>T c.1411C>T substitution 15_ex - p.Gln471X - nonsense RB1_00976 - Fam644 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76910C>T c.1411C>T substitution 15_ex - p.Gln471X - nonsense RB1_00976 - Fam668 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76910C>T c.1411C>T substitution 15_ex - p.Gln471X - nonsense RB1_00976 - D10 other cancer - acral melanoma cell line DNA - - Bloethner et al., 2003 1 published melanoma
+/? g.76910C>T c.1411C>T substitution 15_ex - p.Gln471X - nonsense RB1_00976 - IRB4 unilateral rb somatic Retinoblastoma Tumor DNA heterozygous isolated Iran:Tehran 1 unpublished -
?/? g.77026C>T c.1447C>T Substitution 16_ex - p.His483Tyr [His483Tyr] unknown RB1_01453 - nd retinoblastoma - blood RNA heterozygous familial low penetrance Serrano et al. (2011), Fam Cancer. 2011 May 3 1 published -
?/? g.77033C>T c.1454C>T Substitution 16_ex - p.(Ser485Phe) - missense RB1_01879 unknown Supp_Tab_Mt-66 - - nd DNA - - Price et al., 2013 1 published -
?/? g.78177 C>T Substitution 17 c.1593C>T p.Ile532Ile - splice RB1_02109 germline 01 unilateral rb germline peripheral blood DNA unknown isolated Brazil:Rio de Janeiro 1 unpublished -
-/? g.82599 C>T Substitution 17 c.1596 p.Ile532Ile - silent RB1_02109 germline HSM unilateral rb germline peripheral blood DNA unknown isolated NC_000013.10, Brazil:Rio de Janeiro 1 unpublished -
?/+ g.78094C>T c.1510C>T substitution 17_ex - p.Gln504X - nonsense RB1_00668 - Fam444 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.78094C>T c.1510C>T substitution 17_ex - p.Gln504X - nonsense RB1_00668 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.78094C>T c.1510C>T substitution 17_ex - p.Gln504X - nonsense RB1_00668 - Fam463 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78094C>T c.1510C>T substitution 17_ex - p.Gln504X - nonsense RB1_00668 - T9 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.78128C>T c.1544C>T Substitution 17_ex - p.Pro515Leu - unknown RB1_01572 somatic BT-20 other cancer somatic nd DNA - - COSMIC - COSM35888, Hollestelle et al., 2009 1 published probably damaging / deleterious
?/? g.78229C>T c.1645C>T substitution 17_ex - p.His549Tyr - missense RB1_00120 - TS106 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
501 - 600
[<-] 1 2 3 4 5 6 7 8 9 10 [->]

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