CFTR c.286G>T ;(p.A96S)

Variant ID: 7-117170965-G-T

NM_000492.3(CFTR):c.286G>T;(p.A96S)

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:

Altered conductance and permeability of Cx40 mutations associated with atrial fibrillation.

The Journal Of General Physiology
Santa Cruz, Ana A; Meşe, Gülistan G; Valiuniene, Laima L; Brink, Peter R PR; White, Thomas W TW; Valiunas, Virginijus V
Publication Date: 2015-11

Variant appearance in text: CFTR: A96S
PubMed Link: 26503720
Variant Present in the following documents:
  • Main text
  • JGP_201511475.pdf
View BVdb publication page