RB1 c.1383dup ;(p.K462*)

Variant ID: 13-48953778-C-CT

NM_000321.2(RB1):c.1383dup;(p.K462*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.

Plos One
Parma, Diana D; Ferrer, Marcela M; Luce, Leonela L; Giliberto, Florencia F; Szijan, Irene I
Publication Date: 2017

Variant appearance in text: N/A
PubMed Link: 29261756
Variant Present in the following documents:
View BVdb publication page