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RB1 c.262T>C ;(p.L88=)
Variant ID: 13-48881540-T-C
NM_000321.2(
RB1
):c.262T>C;(p.L88=)
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 germline RB1 mutations and clinical manifestations in retinoblastoma patients from Thailand.
Molecular Vision
Rojanaporn, Duangnate D; Boontawon, Tatpong T; Chareonsirisuthigul, Takol T; Thanapanpanich, Onrampa O; Attaseth, Taweevat T; Saengwimol, Duangporn D; Anurathapan, Usanarat U; Sujirakul, Tharikarn T; Kaewkhaw, Rossukon R; Hongeng, Suradej S
Publication Date: 2018
Variant appearance in text: RB1: Leu88Leu
PubMed Link:
30636860
Variant Present in the following documents:
Main text
mv-v24-778.pdf
View BVdb publication page