USH2A c.10246T>G ;(p.C3416G)

Variant ID: 1-215960153-A-C

NM_206933.2(USH2A):c.10246T>G;(p.C3416G)

This variant was identified in 22 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: 10246T>G; Cys3416Gly
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Scientific Reports
Warrick, Joshua I JI; Knowles, Margaret A MA; Hurst, Carolyn D CD; Shuman, Lauren L; Raman, Jay D JD; Walter, Vonn V; Putt, Jeffrey J; Dyrskjøt, Lars L; Groeneveld, Clarice C; Castro, Mauro A A MAA; Robertson, A Gordon AG; DeGraff, David J DJ
Publication Date: 2022-10-03

Variant appearance in text: USH2A: 10246T>G; C3416G
PubMed Link: 36192513
Variant Present in the following documents:
  • 41598_2022_20927_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: USH2A: 10246T>G; C3416G; rs527236140
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
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: C3416G
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: USH2A: C3416G
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: USH2A: 10246T>G; Cys3416Gly; rs527236140
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: USH2A: 10246T>G; Cys3416Gly
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

American Journal Of Human Genetics
Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH
Publication Date: 2018-10-04

Variant appearance in text: USH2A: 10246T>G; Cys3416Gly
PubMed Link: 30245029
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.

Eye (London, England)
Huang, Lulin L; Mao, Yao Y; Yang, Jiyun J; Li, Yuanfeng Y; Li, Yang Y; Yang, Zhenglin Z
Publication Date: 2018-10

Variant appearance in text: USH2A: C3416G
PubMed Link: 29899460
Variant Present in the following documents:
  • 41433_2018_130_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)
Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J
Publication Date: 2018

Variant appearance in text: USH2A: 10246T>G; Cys3416Gly; rs527236140
PubMed Link: 29343940
Variant Present in the following documents:
  • Main text
  • opth-12-049.pdf
View BVdb publication page



Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22

Variant appearance in text: USH2A: 10246T>G; C3416G
PubMed Link: 28007035
Variant Present in the following documents:
  • 12881_2016_359_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: USH2A: 10246T>G; C3416G
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: USH2A: C3416G
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015

Variant appearance in text: USH2A: 10246T>G; C3416G
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 2
View BVdb publication page



Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Oncotarget
Patil, Vikas V; Pal, Jagriti J; Somasundaram, Kumaravel K
Publication Date: 2015-12-22

Variant appearance in text: USH2A: 10246T>G; C3416G
PubMed Link: 26496030
Variant Present in the following documents:
  • oncotarget-06-43452-s003.xlsx, sheet 1
View BVdb publication page



The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

Bmc Genomics
Yoon, Chang-Ki CK; Kim, Nayoung K D NK; Joung, Je-Gun JG; Shin, Joo Young JY; Park, Jung Hyun JH; Eum, Hye-Hyun HH; Lee, Hae-Ock HO; Park, Woong-Yang WY; Yu, Hyeong Gon HG
Publication Date: 2015-07-09

Variant appearance in text: USH2A: C3416G
PubMed Link: 26155838
Variant Present in the following documents:
  • Main text
  • 12864_2015_Article_1723.pdf
View BVdb publication page



Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.

Plos One
Fan, Dongyan D; Zhu, Wei W; Li, Dejun D; Ji, De D; Wang, Ping P
Publication Date: 2014

Variant appearance in text: USH2A: 10246T>G; C3416G
PubMed Link: 25474651
Variant Present in the following documents:
  • Main text
  • pone.0114136.pdf
View BVdb publication page



Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Plos One
Watson, Christopher M CM; El-Asrag, Mohammed M; Parry, David A DA; Morgan, Joanne E JE; Logan, Clare V CV; Carr, Ian M IM; Sheridan, Eamonn E; Charlton, Ruth R; Johnson, Colin A CA; Taylor, Graham G; Toomes, Carmel C; McKibbin, Martin M; Inglehearn, Chris F CF; Ali, Manir M
Publication Date: 2014

Variant appearance in text: USH2A: 10246T>G; Cys3416Gly
PubMed Link: 25133751
Variant Present in the following documents:
  • pone.0104281.s001.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: USH2A: C3416G
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.

Bmc Cancer
Wen, Hongxiu H; Kim, Yeong C YC; Snyder, Carrie C; Xiao, Fengxia F; Fleissner, Elizabeth A EA; Becirovic, Dina D; Luo, Jiangtao J; Downs, Bradley B; Sherman, Simon S; Cowan, Kenneth H KH; Lynch, Henry T HT; Wang, San Ming SM
Publication Date: 2014-06-26

Variant appearance in text: USH2A: C3416G
PubMed Link: 24969172
Variant Present in the following documents:
  • 1471-2407-14-470-S2.xlsx, sheet 2
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: C3416G
PubMed Link: 23737954
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.

Plos One
Liu, Tiecheng T; Jin, Xin X; Zhang, Xuemin X; Yuan, Huijun H; Cheng, Jing J; Lee, Janet J; Zhang, Baoquan B; Zhang, Maonian M; Wu, Jing J; Wang, Lijuan L; Tian, Geng G; Wang, Weifeng W
Publication Date: 2012

Variant appearance in text: USH2A: 10246T>G
PubMed Link: 23029027
Variant Present in the following documents:
  • Main text
View BVdb publication page