DNAH11 c.10324C>T ;(p.Q3442*)

Variant ID: 7-21847659-C-T

NM_001277115.1(DNAH11):c.10324C>T;(p.Q3442*)

This variant was identified in 2 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: 10324C>T
PubMed Link: 34405951
Variant Present in the following documents:
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: Q3442X
PubMed Link: 22184204
Variant Present in the following documents:
  • Main text
View BVdb publication page