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CFTR c.2005_2006delinsGC ;(p.F669A)
Variant ID: 7-117232226-TT-GC
NM_000492.3(
CFTR
):c.2005_2006delinsGC;(p.F669A)
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:
Differential regulation of a CLC anion channel by SPAK kinase ortholog-mediated multisite phosphorylation.
American Journal Of Physiology. Cell Physiology
Miyazaki, Hiroaki H; Strange, Kevin K
Publication Date: 2012-06-15
Variant appearance in text: CFTR: F669A
PubMed Link:
22357738
Variant Present in the following documents:
Main text
View BVdb publication page