RB1 c.2123T>G ;(p.M708R)

Variant ID: 13-49037883-T-G

NM_000321.2(RB1):c.2123T>G;(p.M708R)

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:

Preimplantation genetic diagnosis for retinoblastoma predisposition.

The British Journal Of Ophthalmology
Dhanjal, Seema S; Kakourou, Georgia G; Mamas, Thalia T; Saleh, Natasha N; Doshi, Alpesh A; Gotts, Sarah S; Nuttall, Sarah S; Fordham, Karen K; Serhal, Paul P; Delhanty, Joy J; Harper, Joyce J; Sengupta, Sioban S
Publication Date: 2007-08

Variant appearance in text: RB1: M708R
PubMed Link: 17638825
Variant Present in the following documents:
  • Main text
View BVdb publication page