KCNQ1 c.387-97G>C

Variant ID: 11-2549061-G-C

NM_000218.2(KCNQ1):c.387-97G>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: KCNQ1: 387-97G>C; rs28730663
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Breast Cancer Clinical Trial of Chemotherapy and Trastuzumab: Potential Tool to Identify Cardiac Modifying Variants of Dilated Cardiomyopathy.

Journal Of Cardiovascular Development And Disease
Serie, Daniel J DJ; Crook, Julia E JE; Necela, Brian M BM; Axenfeld, Bianca C BC; Dockter, Travis J TJ; Colon-Otero, Gerardo G; Perez, Edith A EA; Thompson, E Aubrey EA; Norton, Nadine N
Publication Date: 2017-05-04

Variant appearance in text: rs28730663
PubMed Link: 29367538
Variant Present in the following documents:
  • Main text
  • jcdd-04-00006.pdf
View BVdb publication page