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KCNQ1 c.478-18_478-17insAAGGC
Variant ID: 11-2591839-T-TCAAGG
NM_000218.2(
KCNQ1
):c.478-18_478-17insAAGGC
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:
Novel mutations of KCNQ1 in Long QT syndrome.
Indian Heart Journal
Qureshi, Sameera F SF; Ali, Altaf A; Ananthapur, Venkateshwari V; Jayakrishnan, M P MP; Calambur, Narasimhan N; Thangaraj, Kumarasamy K; Nallari, Pratibha P
Publication Date: 2013
Variant appearance in text: rs187358307
PubMed Link:
24206879
Variant Present in the following documents:
Main text
View BVdb publication page