USH2A c.14513G>A ;(p.G4838E)

Variant ID: 1-215821939-C-T

NM_206933.2(USH2A):c.14513G>A;(p.G4838E)

This variant was identified in 15 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: 14513G>A; Gly4838Glu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: USH2A: G4838E
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: USH2A: G4838E; rs41315587
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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: rs41315587
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.

Computational And Structural Biotechnology Journal
Yu, Dongmei D; Zou, Junhuang J; Chen, Qian Q; Zhu, Tian T; Sui, Ruifang R; Yang, Jun J
Publication Date: 2020

Variant appearance in text: USH2A: 14513G>A
PubMed Link: 32637036
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.

Bmc Ophthalmology
He, Chenhao C; Liu, Xinyu X; Zhong, Zilin Z; Chen, Jianjun J
Publication Date: 2020-02-24

Variant appearance in text: rs41315587
PubMed Link: 32093671
Variant Present in the following documents:
  • 12886_2020_1342_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: USH2A: 14513G>A; Gly4838Glu
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
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: G4838E; rs41315587
PubMed Link: 29899460
Variant Present in the following documents:
  • 41433_2018_130_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: USH2A: G4838E; rs41315587
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.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: 14513G>A; G4838E; rs41315587
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 4
View BVdb publication page



Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns.

Oncotarget
Cifola, Ingrid I; Lionetti, Marta M; Pinatel, Eva E; Todoerti, Katia K; Mangano, Eleonora E; Pietrelli, Alessandro A; Fabris, Sonia S; Mosca, Laura L; Simeon, Vittorio V; Petrucci, Maria Teresa MT; Morabito, Fortunato F; Offidani, Massimo M; Di Raimondo, Francesco F; Falcone, Antonietta A; Caravita, Tommaso T; Battaglia, Cristina C; De Bellis, Gianluca G; Palumbo, Antonio A; Musto, Pellegrino P; Neri, Antonino A
Publication Date: 2015-07-10

Variant appearance in text: USH2A: G4838E; rs41315587
PubMed Link: 26046463
Variant Present in the following documents:
  • oncotarget-06-17543-s002.xls, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: USH2A: G4838E; rs41315587
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Orphanet Journal Of Rare Diseases
Garcia-Garcia, Gema G; Aparisi, Maria J MJ; Jaijo, Teresa T; Rodrigo, Regina R; Leon, Ana M AM; Avila-Fernandez, Almudena A; Blanco-Kelly, Fiona F; Bernal, Sara S; Navarro, Rafael R; Diaz-Llopis, Manuel M; Baiget, Montserrat M; Ayuso, Carmen C; Millan, Jose M JM; Aller, Elena E
Publication Date: 2011-10-17

Variant appearance in text: USH2A: 14513G>A
PubMed Link: 22004887
Variant Present in the following documents:
  • Main text
  • 1750-1172-6-65.pdf
View BVdb publication page



Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics
McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL
Publication Date: 2010-07

Variant appearance in text: USH2: 14513G>A
PubMed Link: 20507924
Variant Present in the following documents:
  • Main text
View BVdb publication page