RB1 c.1322T>C ;(p.I441T)

Variant ID: 13-48951160-T-C

NM_000321.2(RB1):c.1322T>C;(p.I441T)

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:

Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma.

Frontiers In Genetics
Lan, Xiaoping X; Xu, Wuhen W; Tang, Xiaojun X; Ye, Haiyun H; Song, Xiaozhen X; Lin, Longlong L; Ren, Xiang X; Yu, Guangjun G; Zhang, Hong H; Wu, Shengnan S
Publication Date: 2020

Variant appearance in text: RB1: 1322T>C; I441T
PubMed Link: 32218800
Variant Present in the following documents:
  • Main text
  • fgene-11-00142.pdf
View BVdb publication page