RB1 c.1689G>C ;(p.W563C)

Variant ID: 13-48955573-G-C

NM_000321.2(RB1):c.1689G>C;(p.W563C)

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:

Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

Molecular Vision
Singh, Jaya J; Mishra, Avshesh A; Pandian, Arunachalam Jayamuruga AJ; Mallipatna, Ashwin C AC; Khetan, Vikas V; Sripriya, S S; Kapoor, Suman S; Agarwal, Smita S; Sankaran, Satish S; Katragadda, Shanmukh S; Veeramachaneni, Vamsi V; Hariharan, Ramesh R; Subramanian, Kalyanasundaram K; Mannan, Ashraf U AU
Publication Date: 2016

Variant appearance in text: RB1: 1689G>C; Trp563Cys
PubMed Link: 27582626
Variant Present in the following documents:
  • Main text
  • mv-v22-1036.pdf
View BVdb publication page