USH2A c.9593A>C ;(p.Y3198S)

Variant ID: 1-215987224-T-G

NM_206933.2(USH2A):c.9593A>C;(p.Y3198S)

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: 9593A>C; Tyr3198Ser
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: rs772611054
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Clonal dynamics of donor-derived myelodysplastic syndrome after unrelated hematopoietic cell transplantation for high-risk pediatric B-lymphoblastic leukemia.

Cold Spring Harbor Molecular Case Studies
Schwartz, Jason R JR; Walsh, Michael P MP; Ma, Jing J; Lamprecht, Tamara T; Wang, Shuoguo S; Wu, Gang G; Raimondi, Susana S; Triplett, Brandon M BM; Klco, Jeffery M JM
Publication Date: 2018-10

Variant appearance in text: USH2A: Y3198S
PubMed Link: 29891567
Variant Present in the following documents:
  • supp_mcs.a002980_Supplemental_Tables.xlsx, sheet 11
View BVdb publication page