LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002636)
Patient ID TCGA-08-0389
Phenotype -
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM42748, [Cancer Genome Atlas Research Network]
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.5437G>T
cDNA change c.151G>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 02_ex
RNA change Stop gained
Protein p.Glu51X
RBWiki -
expected consequence type unknown
DB-ID RB1_01493
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.5437G>T c.151G>T Substitution 02_ex Stop gained p.Glu51X - unknown RB1_01493 somatic

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