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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