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ACVRL1 c.439C>T ;(p.Q147*)
Variant ID: 12-52307468-C-T
NM_000020.2(
ACVRL1
):c.439C>T;(p.Q147*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05
Variant appearance in text: ACVRL1: 439C>T
PubMed Link:
32371905
Variant Present in the following documents:
41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02
Variant appearance in text:
PubMed Link:
15879500
Variant Present in the following documents:
Main text
View BVdb publication page