DNAH11 c.846G>C ;(p.M282I)

Variant ID: 7-21599374-G-C

NM_001277115.1(DNAH11):c.846G>C;(p.M282I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: M282I; rs375023124
PubMed Link: 35440622
Variant Present in the following documents:
  • 42003_2022_Article_3326.pdf
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: DNAH11: M282I
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
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: 846G>C; Met282Ile
PubMed Link: 32633470
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1358.pdf
View BVdb publication page



DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.

Scientific Reports
Liu, Sida S; Chen, Weicheng W; Zhan, Yongkun Y; Li, Shuolin S; Ma, Xiaojing X; Ma, Duan D; Sheng, Wei W; Huang, Guoying G
Publication Date: 2019-04-30

Variant appearance in text: DNAH11: M282I
PubMed Link: 31040315
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_43109.pdf
View BVdb publication page