LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003069)
Patient ID NCI-H1304
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history unknown
Reference COSMIC - COSM22919
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.162068delG
cDNA change c.2283del   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 22_ex
RNA change -
Protein p.Met761Ilefs*4
RBWiki -
expected consequence type frameshift
DB-ID RB1_01799
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.162068delG c.2283del Substitution 22_ex - p.Met761Ilefs*4 - frameshift RB1_01799 somatic

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