RB1 c.1005del ;(p.L335Ffs*14)

Variant ID: 13-48941695-TA-T

NM_000321.2(RB1):c.1005del;(p.L335Ffs*14)

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: Leu335Phefs*14
PubMed Link: 30636860
Variant Present in the following documents:
  • Main text
  • mv-v24-778.pdf
View BVdb publication page