USH2A c.6986C>A ;(p.P2329H)

Variant ID: 1-216138793-G-T

NM_206933.2(USH2A):c.6986C>A;(p.P2329H)

This variant was identified in 6 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: 6986C>A; Pro2329His
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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: 6986C>A; Pro2329His; rs554957414
PubMed Link: 36729443
Variant Present in the following documents:
  • iovs-64-2-5_s003.xlsx, sheet 1
View BVdb publication page



Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Communications Biology
Musolf, Anthony M AM; Haarman, Annechien E G AEG; Luben, Robert N RN; Ong, Jue-Sheng JS; Patasova, Karina K; Trapero, Rolando Hernandez RH; Marsh, Joseph J; Jain, Ishika I; Jain, Riya R; Wang, Paul Zhiping PZ; Lewis, Deyana D DD; Tedja, Milly S MS; Iglesias, Adriana I AI; Li, Hengtong H; Cowan, Cameron S CS; , ; Biino, Ginevra G; Klein, Alison P AP; Duggal, Priya P; Mackey, David A DA; Hayward, Caroline C; Haller, Toomas T; Metspalu, Andres A; Wedenoja, Juho J; Pärssinen, Olavi O; Cheng, Ching-Yu CY; Saw, Seang-Mei SM; Stambolian, Dwight D; Hysi, Pirro G PG; Khawaja, Anthony P AP; Vitart, Veronique V; Hammond, Christopher J CJ; van Duijn, Cornelia M CM; Verhoeven, Virginie J M VJM; Klaver, Caroline C W CCW; Bailey-Wilson, Joan E JE
Publication Date: 2023-01-03

Variant appearance in text: USH2: Pro2329His
PubMed Link: 36596879
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_4323.pdf
  • 42003_2022_4323_MOESM2_ESM.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: rs554957414
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_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: P2329H
PubMed Link: 33691693
Variant Present in the following documents:
  • 12920_2021_874_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy.

International Journal Of Ophthalmology
Liu, Xiao-Zhen XZ; Tao, Tian-Chang TC; Qi, Hong H; Feng, Shan-Na SN; Chen, Ning-Ning NN; Zhao, Lin L; Ma, Zhi-Zhong ZZ; Li, Gen-Lin GL; Yang, Li-Ping LP
Publication Date: 2020

Variant appearance in text: USH2A: 6986C>A; P2329H
PubMed Link: 32090030
Variant Present in the following documents:
  • Main text
View BVdb publication page