RB1 c.939G>T ;(p.E313D)

Variant ID: 13-48939107-G-T

NM_000321.2(RB1):c.939G>T;(p.E313D)

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:

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Nucleic Acids Research
Desmet, François-Olivier FO; Hamroun, Dalil D; Lalande, Marine M; Collod-Béroud, Gwenaëlle G; Claustres, Mireille M; Béroud, Christophe C
Publication Date: 2009-05

Variant appearance in text: RB1: 939G>T
PubMed Link: 19339519
Variant Present in the following documents:
  • Main text
  • gkp215.pdf
View BVdb publication page