RB1 c.908T>A ;(p.L303H)

Variant ID: 13-48939076-T-A

NM_000321.2(RB1):c.908T>A;(p.L303H)

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:

Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Human Genetics
Cygan, Kamil J KJ; Soemedi, Rachel R; Rhine, Christy L CL; Profeta, Abraham A; Murphy, Eileen L EL; Murray, Michael F MF; Fairbrother, William G WG
Publication Date: 2017-09

Variant appearance in text: RB1: 908T>A
PubMed Link: 28780672
Variant Present in the following documents:
  • Main text
View BVdb publication page