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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