CFTR c.2782G>C ;(p.A928P)

Variant ID: 7-117243710-G-C

NM_000492.3(CFTR):c.2782G>C;(p.A928P)

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 Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

Frontiers In Genetics
El-Seedy, Ayman S AS; Shafiek, Hanaa H; Kitzis, Alain A; Ladevèze, Véronique V
Publication Date: 2017

Variant appearance in text: CFTR: 2782G>C
PubMed Link: 28408918
Variant Present in the following documents:
  • Main text
  • fgene-08-00037.pdf
View BVdb publication page