RB1 c.584G>T ;(p.W195L)

Variant ID: 13-48923136-G-T

NM_000321.2(RB1):c.584G>T;(p.W195L)

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:

Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

Molecular Vision
He, Ming-yan MY; An, Yu Y; Gao, Yi-jin YJ; Qian, Xiao-wen XW; Li, Gang G; Qian, Jiang J
Publication Date: 2014

Variant appearance in text: RB1: 584G>T; W195L
PubMed Link: 24791139
Variant Present in the following documents:
  • Main text
  • mv-v20-545.pdf
View BVdb publication page