CFTR c.1731C>A ;(p.Y577*)

Variant ID: 7-117230458-C-A

NM_000492.3(CFTR):c.1731C>A;(p.Y577*)

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:

Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.

Erj Open Research
Zampoli, Marco M; Verstraete, Janine J; Frauendorf, Marlize M; Kassanjee, Reshma R; Workman, Lesley L; Morrow, Brenda M BM; Zar, Heather J HJ
Publication Date: 2021-07

Variant appearance in text: CFTR: Tyr577X
PubMed Link: 34350279
Variant Present in the following documents:
  • 00856-2020.supplement.pdf
View BVdb publication page