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RB1 c.1449T>G ;(p.H483Q)
Variant ID: 13-48954328-T-G
NM_000321.2(
RB1
):c.1449T>G;(p.H483Q)
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:
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.
Human Genetics
Cygan, Kamil J KJ; Soemedi, Rachel R; Rhine, Christy L CL; Profeta, Abraham A; Murphy, Eileen L EL; Murray, Michael F MF; Fairbrother, William G WG
Publication Date: 2017-09
Variant appearance in text: RB1: 1449T>G
PubMed Link:
28780672
Variant Present in the following documents:
Main text
View BVdb publication page