DNAH11 c.2753G>T ;(p.G918V)

Variant ID: 7-21639490-G-T

NM_001277115.1(DNAH11):c.2753G>T;(p.G918V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.

Journal Of Cellular And Molecular Medicine
Xiong, Ying Y; Xia, Hong H; Yuan, Lamei L; Deng, Sheng S; Ding, Zerui Z; Deng, Hao H
Publication Date: 2021-09

Variant appearance in text: DNAH11: 2753G>T
PubMed Link: 34405951
Variant Present in the following documents:
View BVdb publication page



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: 2753G>T; Gly918Val
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: 2753G>T; Gly918Val
PubMed Link: 32633470
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1358.pdf
View BVdb publication page



Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients.

Bioscience Reports
Zhu, Dongliang D; Zhang, Hongguo H; Wang, Ruixue R; Liu, Xiaojun X; Jiang, Yuting Y; Feng, Tao T; Liu, Ruizhi R; Zhang, Guirong G
Publication Date: 2019-06-28

Variant appearance in text: DNAH11: 2753G>T
PubMed Link: 31160482
Variant Present in the following documents:
  • Main text
  • bsr-39-bsr20181450.pdf
View BVdb publication page