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RB1 c.175del ;(p.A59Hfs*6)
Variant ID: 13-48881453-TG-T
NM_000321.2(
RB1
):c.175del;(p.A59Hfs*6)
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:
Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.
Plos One
Tomar, Swati S; Sethi, Raman R; Sundar, Gangadhara G; Quah, Thuan Chong TC; Quah, Boon Long BL; Lai, Poh San PS
Publication Date: 2017
Variant appearance in text: RB1: 175delG
PubMed Link:
28575107
Variant Present in the following documents:
Main text
pone.0178776.pdf
View BVdb publication page