CFTR c.629T>C ;(p.L210P)

Variant ID: 7-117175351-T-C

NM_000492.3(CFTR):c.629T>C;(p.L210P)

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:

Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

The Journal Of Membrane Biology
Schlebach, Jonathan P JP; Sanders, Charles R CR
Publication Date: 2015-06

Variant appearance in text: CFTR: L210P
PubMed Link: 25192979
Variant Present in the following documents:
  • Main text
View BVdb publication page