CFTR c.2254A>G ;(p.I752V)

Variant ID: 7-117232475-A-G

NM_000492.3(CFTR):c.2254A>G;(p.I752V)

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:

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One
Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M
Publication Date: 2014

Variant appearance in text: CFTR: 2254A>G; I752V
PubMed Link: 24586523
Variant Present in the following documents:
  • Main text
  • pone.0089094.pdf
View BVdb publication page