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.




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