USH2A c.13361T>A ;(p.V4454D)

Variant ID: 1-215847892-A-T

NM_206933.2(USH2A):c.13361T>A;(p.V4454D)

This variant was identified in 4 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: 13361T>A; Val4454Asp
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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: rs148033154
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg
Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I
Publication Date: 2022-01

Variant appearance in text: USH2A: 13361T>A; Val4454Asp
PubMed Link: 34837038
Variant Present in the following documents:
  • Main text
  • 41431_2021_984_MOESM4_ESM.xlsx, sheet 1
  • 41431_2021_984_MOESM3_ESM.xlsx, sheet 1
  • 41431_2021_Article_984.pdf
  • 41431_2021_984_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg
Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I
Publication Date: 2021-11-26

Variant appearance in text: USH2A: 13361T>A; Val4454Asp
PubMed Link: 34837038
Variant Present in the following documents:
  • Main text
  • 41431_2021_984_MOESM4_ESM.xlsx, sheet 1
  • 41431_2021_984_MOESM3_ESM.xlsx, sheet 1
  • 41431_2021_Article_984.pdf
  • 41431_2021_984_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: USH2A: V4454D; rs148033154
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 6
  • srep46105-s2.xls, sheet 8
View BVdb publication page