CFTR c.1471del ;(p.C491Vfs*36)

Variant ID: 7-117199596-CT-C

NM_000492.3(CFTR):c.1471del;(p.C491Vfs*36)

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:

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

American Journal Of Human Genetics
Chong, Jessica X JX; Ouwenga, Rebecca R; Anderson, Rebecca L RL; Waggoner, Darrel J DJ; Ober, Carole C
Publication Date: 2012-10-05

Variant appearance in text: CFTR: 1471delT
PubMed Link: 22981120
Variant Present in the following documents:
  • Main text
View BVdb publication page