DNAH11 c.11662C>T ;(p.R3888C)

Variant ID: 7-21906253-C-T

NM_001277115.1(DNAH11):c.11662C>T;(p.R3888C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Plos One
Xia, Hong H; Huang, Xiangjun X; Deng, Sheng S; Xu, Hongbo H; Yang, Yan Y; Liu, Xin X; Yuan, Lamei L; Deng, Hao H
Publication Date: 2021

Variant appearance in text: DNAH11: 11662C>T; Arg3888Cys
PubMed Link: 34133440
Variant Present in the following documents:
  • Main text
  • pone.0252786.pdf
View BVdb publication page



A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.

Molecular Genetics & Genomic Medicine
Namavarian, Amirpouyan A; Eid, Anas A; Goh, Elaine Suk-Ying ES; Thakur, Varsha V
Publication Date: 2020-09

Variant appearance in text: DNAH11: 11662C>T; R3888C
PubMed Link: 32633470
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1358.pdf
View BVdb publication page