CFTR c.1894G>T ;(p.E632*)

Variant ID: 7-117232115-G-T

NM_000492.3(CFTR):c.1894G>T;(p.E632*)

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:

Liddle's syndrome mutations disrupt cAMP-mediated translocation of the epithelial Na(+) channel to the cell surface.

The Journal Of Clinical Investigation
Snyder, P M PM
Publication Date: 2000-01

Variant appearance in text: CFTR: E632X
PubMed Link: 10619860
Variant Present in the following documents:
  • Main text
View BVdb publication page