LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003073)
Patient ID S83095
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype unknown
family history unknown
Reference COSMIC - COS922
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.170377delT
cDNA change c.2495delT   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 24_ex
RNA change -
Protein p.Leu832X
RBWiki -
expected consequence type frameshift
DB-ID RB1_01803
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.170377delT c.2495delT Substitution 24_ex - p.Leu832X - frameshift RB1_01803 somatic

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