CFTR c.3253_3254inv ;(p.H1085C)

Variant ID: 7-117251748-CA-TG

NM_000492.3(CFTR):c.3253_3254inv;(p.H1085C)

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:

Functional Architecture of the Cytoplasmic Entrance to the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Pore.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2015-06-19

Variant appearance in text: CFTR: H1085C
PubMed Link: 25944907
Variant Present in the following documents:
  • Main text
View BVdb publication page