CFTR c.1611C>G ;(p.D537E)

Variant ID: 7-117227819-C-G

NM_000492.3(CFTR):c.1611C>G;(p.D537E)

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:

The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis.

Journal Of Prenatal Medicine
Mesoraca, Alvaro A; Di Natale, Manuela M; Cima, Antonella A; Di Giacomo, Gianluca G; Sarti, Monica M; Barone, Maria Antonietta MA; Bizzoco, Domenico D; Cignini, Pietro P; Mobili, Luisa L; Dʼemidio, Laura L; Giorlandino, Claudio C
Publication Date: 2010-07

Variant appearance in text: CFTR: D537E
PubMed Link: 22439061
Variant Present in the following documents:
  • Main text
View BVdb publication page