RB1 c.2067G>C ;(p.Q689H)

Variant ID: 13-49033930-G-C

NM_000321.2(RB1):c.2067G>C;(p.Q689H)

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:

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Plos One
Tomar, Swati S; Sethi, Raman R; Sundar, Gangadhara G; Quah, Thuan Chong TC; Quah, Boon Long BL; Lai, Poh San PS
Publication Date: 2017

Variant appearance in text: RB1: 2067G>C; Gln689His
PubMed Link: 28575107
Variant Present in the following documents:
  • Main text
  • pone.0178776.pdf
View BVdb publication page