RB1 c.1646A>T ;(p.H549L)

Variant ID: 13-48955530-A-T

NM_000321.2(RB1):c.1646A>T;(p.H549L)

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:

Increased incidence and disparity of diagnosis of retinoblastoma patients in Guatemala.

Cancer Letters
Dean, Michael M; Bendfeldt, Giovana G; Lou, Hong H; Giron, Veronica V; Garrido, Claudia C; Valverde, Patricia P; Barnoya, Margarita M; Castellanos, Mauricio M; Jiménez-Morales, Silvia S; Luna-Fineman, Sandra S
Publication Date: 2014-08-28

Variant appearance in text: RB1: 1646A>T; H549L
PubMed Link: 24814393
Variant Present in the following documents:
  • Main text
View BVdb publication page