USH2A c.9079G>T ;(p.E3027*)

Variant ID: 1-216017815-C-A

NM_206933.2(USH2A):c.9079G>T;(p.E3027*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: USH2A: 9079G>T
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Human Genetics
Usami, Shin-Ichi SI; Nishio, Shin-Ya SY
Publication Date: 2022-04

Variant appearance in text: USH2A: 9079G>T; Glu3027Ter
PubMed Link: 34599366
Variant Present in the following documents:
  • 439_2021_2371_MOESM2_ESM.xlsx, sheet 1
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: E3027X
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page



Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.

International Journal Of Audiology
D'Aguillo, Christine C; Bressler, Sara S; Yan, Denise D; Mittal, Rahul R; Fifer, Robert R; Blanton, Susan H SH; Liu, Xuezhong X
Publication Date: 2019-12

Variant appearance in text: USH2A: E3027X
PubMed Link: 31264897
Variant Present in the following documents:
  • Main text
View BVdb publication page



An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.

Journal Of Human Genetics
Sakuma, Naoko N; Moteki, Hideaki H; Takahashi, Masahiro M; Nishio, Shin-ya SY; Arai, Yasuhiro Y; Yamashita, Yukiko Y; Oridate, Nobuhiko N; Usami, Shin-ichi S
Publication Date: 2016-03

Variant appearance in text: USH2A: E3027X
PubMed Link: 26763877
Variant Present in the following documents:
  • Main text
  • jhg2015143a.pdf
View BVdb publication page