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KCNQ1 c.386+14426T>C
Variant ID: 11-2481140-T-C
NM_000218.2(
KCNQ1
):c.386+14426T>C
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:
Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.
European Journal Of Human Genetics : Ejhg
Alders, Marielle M; Bliek, Jet J; vd Lip, Karin K; vd Bogaard, Ruud R; Mannens, Marcel M
Publication Date: 2009-04
Variant appearance in text: rs16928285
PubMed Link:
18854861
Variant Present in the following documents:
Main text
View BVdb publication page