USH2A c.12282T>G ;(p.N4094K)

Variant ID: 1-215853503-A-C

NM_206933.2(USH2A):c.12282T>G;(p.N4094K)

This variant was identified in 3 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: 12282T>G; Asn4094Lys
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01

Variant appearance in text: USH2A: N4094K
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 9
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Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics
McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL
Publication Date: 2010-07

Variant appearance in text: USH2: 12282T>G
PubMed Link: 20507924
Variant Present in the following documents:
  • Main text
View BVdb publication page