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.




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