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CFTR c.3364_3366inv ;(p.T1122C)
Variant ID: 7-117251859-ACA-TGT
NM_000492.3(
CFTR
):c.3364_3366inv;(p.T1122C)
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:
Relative movements of transmembrane regions at the outer mouth of the cystic fibrosis transmembrane conductance regulator channel pore during channel gating.
The Journal Of Biological Chemistry
Wang, Wuyang W; Linsdell, Paul P
Publication Date: 2012-09-14
Variant appearance in text: CFTR: T1122C
PubMed Link:
22843683
Variant Present in the following documents:
Main text
View BVdb publication page