ACVRL1 c.1449_1450insTGGA ;(p.R484Wfs*11)

Variant ID: 12-52314614-G-GTGGA

NM_000020.2(ACVRL1):c.1449_1450insTGGA;(p.R484Wfs*11)

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:

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: ACVRL1: R484Wfs
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page