CFTR c.3352T>G ;(p.S1118A)

Variant ID: 7-117251847-T-G

NM_000492.3(CFTR):c.3352T>G;(p.S1118A)

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:

Relationship between anion binding and anion permeability revealed by mutagenesis within the cystic fibrosis transmembrane conductance regulator chloride channel pore.

The Journal Of Physiology
Linsdell, P P
Publication Date: 2001-02-15

Variant appearance in text: CFTR: S1118A
PubMed Link: 11179391
Variant Present in the following documents:
  • Main text
View BVdb publication page