DNAH11 c.6131G>A ;(p.R2044Q)

Variant ID: 7-21737782-G-A

NM_001277115.1(DNAH11):c.6131G>A;(p.R2044Q)

This variant was identified in 3 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: R2044Q
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: DNAH11: R2044Q; rs372051486
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Communications Biology
Wonkam, Ambroise A; Adadey, Samuel Mawuli SM; Schrauwen, Isabelle I; Aboagye, Elvis Twumasi ET; Wonkam-Tingang, Edmond E; Esoh, Kevin K; Popel, Kalinka K; Manyisa, Noluthando N; Jonas, Mario M; deKock, Carmen C; Nembaware, Victoria V; Cornejo Sanchez, Diana M DM; Bharadwaj, Thashi T; Nasir, Abdul A; Everard, Jenna L JL; Kadlubowska, Magda K MK; Nouel-Saied, Liz M LM; Acharya, Anushree A; Quaye, Osbourne O; Amedofu, Geoffrey K GK; Awandare, Gordon A GA; Leal, Suzanne M SM
Publication Date: 2022-04-19

Variant appearance in text: DNAH11: 6131G>A; rs372051486
PubMed Link: 35440622
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3326.pdf
View BVdb publication page