DNAH11 c.5473dup ;(p.Q1825Pfs*23)

Variant ID: 7-21723410-T-TC

NM_001277115.1(DNAH11):c.5473dup;(p.Q1825Pfs*23)

This variant was identified in 3 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: 5473dup; Gln1825Profs
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: 5470dupC
PubMed Link: 32633470
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1358.pdf
View BVdb publication page



DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.

Scientific Reports
Liu, Sida S; Chen, Weicheng W; Zhan, Yongkun Y; Li, Shuolin S; Ma, Xiaojing X; Ma, Duan D; Sheng, Wei W; Huang, Guoying G
Publication Date: 2019-04-30

Variant appearance in text: DNAH11: 5470dupC
PubMed Link: 31040315
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_43109.pdf
View BVdb publication page