DNAH11 c.8719C>T ;(p.P2907S)

Variant ID: 7-21789341-C-T

NM_001277115.1(DNAH11):c.8719C>T;(p.P2907S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: 8719C>T
PubMed Link: 32633470
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1358.pdf
View BVdb publication page



Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11

Variant appearance in text: DNAH11: 8719C>T
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
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: 8719C>T
PubMed Link: 31160482
Variant Present in the following documents:
  • Main text
  • bsr-39-bsr20181450.pdf
View BVdb publication page



The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

Annals Of The American Thoracic Society
Kim, Raymond H RH; A Hall, David D; Cutz, Ernest E; Knowles, Michael R MR; Nelligan, Kathleen A KA; Nykamp, Keith K; Zariwala, Maimoona A MA; Dell, Sharon D SD
Publication Date: 2014-03

Variant appearance in text: DNAH11: 8719C>T
PubMed Link: 24498942
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: DNAH11: 8719C>T
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-9.xlsx, sheet 1
View BVdb publication page