USH2A c.9469C>T ;(p.Q3157*)

Variant ID: 1-215990440-G-A

NM_206933.2(USH2A):c.9469C>T;(p.Q3157*)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: USH2A: 9469C>T; Gln3157Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science
Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W
Publication Date: 2023-02-01

Variant appearance in text: USH2A: 9469C>T; Gln3157*; rs772100045
PubMed Link: 36729443
Variant Present in the following documents:
  • iovs-64-2-5_s003.xlsx, sheet 1
View BVdb publication page



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: 9469C>T
PubMed Link: 36110214
Variant Present in the following documents:
  • Main text
  • fgene-13-900548.pdf
View BVdb publication page



Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Genes
Feenstra, Helena M HM; Al-Khuzaei, Saoud S; Shah, Mital M; Broadgate, Suzanne S; Shanks, Morag M; Kamath, Archith A; Yu, Jing J; Jolly, Jasleen K JK; MacLaren, Robert E RE; Clouston, Penny P; Halford, Stephanie S; Downes, Susan M SM
Publication Date: 2022-08-10

Variant appearance in text: USH2A: 9469C>T
PubMed Link: 36011334
Variant Present in the following documents:
  • genes-13-01423.pdf
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: rs772100045
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Npj Genomic Medicine
Chau, Jeffrey Fong Ting JFT; Yu, Mullin Ho Chung MHC; Chui, Martin Man Chun MMC; Yeung, Cyrus Chun Wing CCW; Kwok, Aaron Wing Cheung AWC; Zhuang, Xuehan X; Lee, Ryan R; Fung, Jasmine Lee Fong JLF; Lee, Mianne M; Mak, Christopher Chun Yu CCY; Ng, Nicole Ying Ting NYT; Chung, Claudia Ching Yan CCY; Chan, Marcus Chun Yin MCY; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Chan, Kelvin Yuen Kwong KYK; Kan, Anita Sik Yau ASY; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Yeung, Kit San KS; Chung, Brian Hon Yin BHY; Tang, Clara Sze Man CSM
Publication Date: 2022-03-21

Variant appearance in text: USH2A: 9469C>T; Gln3157Ter; rs772100045
PubMed Link: 35314707
Variant Present in the following documents:
  • 41525_2022_287_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.

Orphanet Journal Of Rare Diseases
Shen, Ren-Juan RJ; Wang, Jun-Gang JG; Li, Yang Y; Jin, Zi-Bing ZB
Publication Date: 2021-06-15

Variant appearance in text: USH2A: Q3157X
PubMed Link: 34130719
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_1902.pdf
View BVdb publication page



Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Clinical Genetics
Wafa, Talah T TT; Faridi, Rabia R; King, Kelly A KA; Zalewski, Christopher C; Yousaf, Rizwan R; Schultz, Julie M JM; Morell, Robert J RJ; Muskett, Julie J; Turriff, Amy A; Tsilou, Ekaterini E; Griffith, Andrew J AJ; Friedman, Thomas B TB; Zein, Wadih M WM; Brewer, Carmen C CC
Publication Date: 2021-02

Variant appearance in text: USH2: 9469C>T
PubMed Link: 33089500
Variant Present in the following documents:
  • Main text
  • CGE-99-226.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: Q3157X
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: USH2A: 9469C>T; Gln3157*; rs772100045
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.

The British Journal Of Ophthalmology
Gao, Feng-Juan FJ; Wang, Dan-Dan DD; Chen, Fang F; Sun, Hao-Xiang HX; Hu, Fang-Yuan FY; Xu, Ping P; Li, Jiankang J; Liu, Wei W; Qi, Yu-He YH; Li, Wei W; Wang, Ming M; Zhang, Shenghai S; Xu, Ge-Zhi GZ; Chang, Qing Q; Wu, Ji-Hong JH
Publication Date: 2021-01

Variant appearance in text: USH2A: 9469C>T
PubMed Link: 32188678
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.

Molecular Genetics & Genomic Medicine
Sun, Yan Y; Li, Wei W; Li, Jian-Kang JK; Wang, Zhuo-Shi ZS; Bai, Jin-Yue JY; Xu, Ling L; Xing, Bo B; Yang, Wen W; Wang, Zi-Wei ZW; Wang, Lu-Sheng LS; He, Wei W; Chen, Fang F
Publication Date: 2020-04

Variant appearance in text: USH2A: 9469C>T; Gln3157Ter
PubMed Link: 32100970
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1184.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: USH2A: 9469C>T; Gln3157Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Orphanet Journal Of Rare Diseases
Jiang, Lichun L; Liang, Xiaofang X; Li, Yumei Y; Wang, Jing J; Zaneveld, Jacques Eric JE; Wang, Hui H; Xu, Shan S; Wang, Keqing K; Wang, Binbin B; Chen, Rui R; Sui, Ruifang R
Publication Date: 2015-09-04

Variant appearance in text: USH2A: Q3157X
PubMed Link: 26338283
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_329.pdf
View BVdb publication page



Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Plos One
Huang, Xiu-Feng XF; Xiang, Ping P; Chen, Jie J; Xing, Dong-Jun DJ; Huang, Na N; Min, Qingjie Q; Gu, Feng F; Tong, Yi Y; Pang, Chi-Pui CP; Qu, Jia J; Jin, Zi-Bing ZB
Publication Date: 2013

Variant appearance in text: USH2A: 9469C>T
PubMed Link: 23737954
Variant Present in the following documents:
  • Main text
  • pone.0063832.pdf
View BVdb publication page