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KCNQ1 c.919_920delinsTC ;(p.V307S)
Variant ID: 11-2594214-GT-TC
NM_000218.2(
KCNQ1
):c.919_920delinsTC;(p.V307S)
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:
Tight coupling of rubidium conductance and inactivation in human KCNQ1 potassium channels.
The Journal Of Physiology
Seebohm, Guiscard G; Sanguinetti, Michael C MC; Pusch, Michael M
Publication Date: 2003-10-15
Variant appearance in text: KCNQ1: V307S
PubMed Link:
14561821
Variant Present in the following documents:
Main text
View BVdb publication page