CFTR c.3128T>G ;(p.L1043R)

Variant ID: 7-117250712-T-G

NM_000492.3(CFTR):c.3128T>G;(p.L1043R)

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:

Genetics and genomic medicine in Tunisia.

Molecular Genetics & Genomic Medicine
Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H
Publication Date: 2018-03

Variant appearance in text: CFTR: Leu1043Arg
PubMed Link: 29663716
Variant Present in the following documents:
  • Main text
  • MGG3-6-134.pdf
View BVdb publication page