USH2A c.11328T>G ;(p.Y3776*)

Variant ID: 1-215931998-A-C

NM_206933.2(USH2A):c.11328T>G;(p.Y3776*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.

Frontiers In Genetics
Li, Wei W; Jiang, Xiao-Sen XS; Han, Dong-Ming DM; Gao, Jia-Yu JY; Yang, Zheng-Tao ZT; Jiang, Li L; Zhang, Qian Q; Zhang, Sheng-Hai SH; Gao, Ya Y; Wu, Ji-Hong JH; Li, Jian-Kang JK
Publication Date: 2022

Variant appearance in text: USH2A: 11328T>G
PubMed Link: 36110214
Variant Present in the following documents:
  • Main text
  • fgene-13-900548.pdf
View BVdb publication page



Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Scientific Reports
Kim, So Young SY; Kim, Bong Jik BJ; Oh, Doo Yi DY; Han, Jin Hee JH; Yi, Nayoung N; Kim, Namju Justin NJ; Park, Moo Kyun MK; Keum, Changwon C; Seo, Go Hun GH; Choi, Byung Yoon BY
Publication Date: 2022-07-21

Variant appearance in text: USH2A: 11328T>G; Tyr3776*
PubMed Link: 35864128
Variant Present in the following documents:
  • 41598_2022_16661_MOESM1_ESM.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: 11328T>G; Tyr3776Ter
PubMed Link: 34599366
Variant Present in the following documents:
  • 439_2021_2371_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.

Scientific Reports
Kim, So Young SY; Lee, Seungmin S; Seo, Go Hun GH; Kim, Bong Jik BJ; Oh, Doo Yi DY; Han, Jin Hee JH; Park, Moo Kyun MK; Lee, So Min SM; Kim, Bonggi B; Yi, Nayoung N; Kim, Namju Justin NJ; Koh, Doo Hyun DH; Hwang, Sohyun S; Keum, Changwon C; Choi, Byung Yoon BY
Publication Date: 2021-09-30

Variant appearance in text: USH2A: 11328T>G; Tyr3776*
PubMed Link: 34593925
Variant Present in the following documents:
  • 41598_2021_99007_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics
Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG
Publication Date: 2021-03-10

Variant appearance in text: USH2A: Y3776X
PubMed Link: 33691693
Variant Present in the following documents:
  • 12920_2021_874_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.

International Journal Of Molecular Sciences
Inaba, Akira A; Maeda, Akiko A; Yoshida, Akiko A; Kawai, Kanako K; Hirami, Yasuhiko Y; Kurimoto, Yasuo Y; Kosugi, Shinji S; Takahashi, Masayo M
Publication Date: 2020-10-22

Variant appearance in text: USH2A: 11328T>G; Tyr3776*
PubMed Link: 33105608
Variant Present in the following documents:
  • Main text
  • ijms-21-07817.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: Y3776X
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page



Analysis of gene expression signatures identifies prognostic and functionally distinct ovarian clear cell carcinoma subtypes.

Ebiomedicine
Tan, Tuan Zea TZ; Ye, Jieru J; Yee, Chung Vin CV; Lim, Diana D; Ngoi, Natalie Yan Li NYL; Tan, David Shao Peng DSP; Huang, Ruby Yun-Ju RY
Publication Date: 2019-12

Variant appearance in text: USH2A: 11328T>G; Y3776*; rs749726310
PubMed Link: 31761620
Variant Present in the following documents:
  • mmc1.xlsx, sheet 8
View BVdb publication page