DNAH11 c.7914G>C ;(p.Q2638H)

Variant ID: 7-21779291-G-C

NM_001277115.1(DNAH11):c.7914G>C;(p.Q2638H)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: DNAH11: Q2638H
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



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: 7914G>C
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: 7914G>C
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: 7914G>C
PubMed Link: 32633470
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1358.pdf
View BVdb publication page



DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.

American Journal Of Respiratory Cell And Molecular Biology
Dougherty, Gerard W GW; Loges, Niki T NT; Klinkenbusch, Judith A JA; Olbrich, Heike H; Pennekamp, Petra P; Menchen, Tabea T; Raidt, Johanna J; Wallmeier, Julia J; Werner, Claudius C; Westermann, Cordula C; Ruckert, Christian C; Mirra, Virginia V; Hjeij, Rim R; Memari, Yasin Y; Durbin, Richard R; Kolb-Kokocinski, Anja A; Praveen, Kavita K; Kashef, Mohammad A MA; Kashef, Sara S; Eghtedari, Fardin F; Häffner, Karsten K; Valmari, Pekka P; Baktai, György G; Aviram, Micha M; Bentur, Lea L; Amirav, Israel I; Davis, Erica E EE; Katsanis, Nicholas N; Brueckner, Martina M; Shaposhnykov, Artem A; Pigino, Gaia G; Dworniczak, Bernd B; Omran, Heymut H
Publication Date: 2016-08

Variant appearance in text: DNAH11: 7914G>C
PubMed Link: 26909801
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Thorax
Knowles, Michael R MR; Leigh, Margaret W MW; Carson, Johnny L JL; Davis, Stephanie D SD; Dell, Sharon D SD; Ferkol, Thomas W TW; Olivier, Kenneth N KN; Sagel, Scott D SD; Rosenfeld, Margaret M; Burns, Kimberlie A KA; Minnix, Susan L SL; Armstrong, Michael C MC; Lori, Adriana A; Hazucha, Milan J MJ; Loges, Niki T NT; Olbrich, Heike H; Becker-Heck, Anita A; Schmidts, Miriam M; Werner, Claudius C; Omran, Heymut H; Zariwala, Maimoona A MA; ,
Publication Date: 2012-05

Variant appearance in text: DNAH11: 7914G>C
PubMed Link: 22184204
Variant Present in the following documents:
  • Main text
View BVdb publication page