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RB1 c.2269A>T ;(p.N757Y)
Variant ID: 13-49039191-A-T
NM_000321.2(
RB1
):c.2269A>T;(p.N757Y)
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:
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03
Variant appearance in text: RB1: 2269A>T
PubMed Link:
34983940
Variant Present in the following documents:
41431_2021_1013_MOESM1_ESM.pdf
View BVdb publication page