LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002684)
Patient ID TCGA-02-0079
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM42749, Cancer Genome Atlas Research Network 2008
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.73809C>A
cDNA change c.1272C>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 13_ex
RNA change -
Protein p.Tyr424X
RBWiki -
expected consequence type nonsense
DB-ID RB1_01511
originated_in somatic

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
?/? Unknown g.73809C>A c.1272C>A Substitution 13_ex - p.Tyr424X - nonsense RB1_01511 somatic

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