USH2A c.10939G>A ;(p.G3647S)

Variant ID: 1-215953185-C-T

NM_206933.2(USH2A):c.10939G>A;(p.G3647S)

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: 10939G>A; Gly3647Ser
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.

International Journal Of Molecular Sciences
Reurink, Janine J; Oostrik, Jaap J; Aben, Marco M; Ramos, Mariana Guimarães MG; van Berkel, Emma E; Ołdak, Monika M; van Wijk, Erwin E; Kremer, Hannie H; Roosing, Susanne S; Cremers, Frans P M FPM
Publication Date: 2022-11-01

Variant appearance in text: USH2A: 10939G>A
PubMed Link: 36362125
Variant Present in the following documents:
  • Main text
  • ijms-23-13343.pdf
View BVdb publication page



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: G3647S
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page



Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Molecular Genetics & Genomic Medicine
Krawitz, Peter M PM; Schiska, Daniela D; Krüger, Ulrike U; Appelt, Sandra S; Heinrich, Verena V; Parkhomchuk, Dmitri D; Timmermann, Bernd B; Millan, Jose M JM; Robinson, Peter N PN; Mundlos, Stefan S; Hecht, Jochen J; Gross, Manfred M
Publication Date: 2014-09

Variant appearance in text: USH2A: 10939G>A
PubMed Link: 25333064
Variant Present in the following documents:
  • Main text
  • mgg30002-0393.pdf
View BVdb publication page