USH2A c.10202T>C ;(p.I3401T)

Variant ID: 1-215960197-A-G

NM_206933.2(USH2A):c.10202T>C;(p.I3401T)

This variant was identified in 3 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: 10202T>C; Ile3401Thr
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: rs755754255
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.

Cold Spring Harbor Molecular Case Studies
Kiraly-Borri, Catherine C; Jevon, Gareth G; Ji, Weizhen W; Jeffries, Lauren L; Ricciardi, Jamie-Lee JL; Konstantino, Monica M; Ackerman, Kate G KG; Lakhani, Saquib A SA
Publication Date: 2019-06

Variant appearance in text: USH2A: 10202T>C; Ile3401Thr; rs755754255
PubMed Link: 30819764
Variant Present in the following documents:
  • Main text
  • MCS003699Kir.pdf
View BVdb publication page