CFTR c.2795T>C ;(p.F932S)

Variant ID: 7-117243723-T-C

NM_000492.3(CFTR):c.2795T>C;(p.F932S)

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:

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Orphanet Journal Of Rare Diseases
De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A
Publication Date: 2017-08-22

Variant appearance in text: CFTR: F932S
PubMed Link: 28830496
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_694.pdf
View BVdb publication page