CFTR c.2247G>A ;(p.L749=)

Variant ID: 7-117232468-G-A

NM_000492.3(CFTR):c.2247G>A;(p.L749=)

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:

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

The Journal Of Molecular Diagnostics : Jmd
Audrezet, Marie-Pierre MP; Dabricot, Aurélia A; Le Marechal, Cédric C; Ferec, Claude C
Publication Date: 2008-09

Variant appearance in text: CFTR: L749L
PubMed Link: 18687795
Variant Present in the following documents:
  • Main text
View BVdb publication page