USH2A c.10820A>C ;(p.H3607P)

Variant ID: 1-215953304-T-G

NM_206933.2(USH2A):c.10820A>C;(p.H3607P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: USH2A: 10820A>C; His3607Pro
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology
Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD
Publication Date: 2022-03-26

Variant appearance in text: rs750321557
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.

Ophthalmic Genetics
Villanueva, Adda A; Biswas, Pooja P; Kishaba, Kameron K; Suk, John J; Tadimeti, Keerti K; Raghavendra, Pongali B PB; Nadeau, Karine K; Lamontagne, Bruno B; Busque, Lambert L; Geoffroy, Steve S; Mongrain, Ian I; Asselin, Géraldine G; Provost, Sylvie S; Dubé, Marie-Pierre MP; Nudleman, Eric E; Ayyagari, Radha R
Publication Date: 2018

Variant appearance in text: USH2A: 10820A>C; His3607Pro; rs750321557
PubMed Link: 28945494
Variant Present in the following documents:
  • Main text
View BVdb publication page