CFTR c.400A>T ;(p.R134W)

Variant ID: 7-117171079-A-T

NM_000492.3(CFTR):c.400A>T;(p.R134W)

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:

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

European Journal Of Human Genetics : Ejhg
D'Adamo, Pio P; Guerci, Veronica Ileana VI; Fabretto, Antonella A; Faletra, Flavio F; Grasso, Domenico Leonardo DL; Ronfani, Luca L; Montico, Marcella M; Morgutti, Marcello M; Guastalla, PierPaolo P; Gasparini, Paolo P
Publication Date: 2009-03

Variant appearance in text: CFTR: R134W
PubMed Link: 19050724
Variant Present in the following documents:
  • Main text
View BVdb publication page