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KCNQ1 c.1514+37846G>A
Variant ID: 11-2721157-G-A
NM_000218.2(
KCNQ1
):c.1514+37846G>A
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Scientific Reports
Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q
Publication Date: 2022-12-23
Variant appearance in text: rs3782064
PubMed Link:
36564540
Variant Present in the following documents:
41598_2022_26850_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells.
Plos One
Frost, Jennifer M JM; Udayashankar, Ramya R; Moore, Harry D HD; Moore, Gudrun E GE
Publication Date: 2010-07-14
Variant appearance in text: rs3782064
PubMed Link:
20644730
Variant Present in the following documents:
Main text
pone.0011595.pdf
View BVdb publication page