S1PR2 c.857T>A ;(p.V286D)

Variant ID: 19-10334725-A-T

NM_004230.3(S1PR2):c.857T>A;(p.V286D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Medrxiv : The Preprint Server For Health Sciences
Lewis, Morag A MA; Schulte, Jennifer J; Matthews, Lois L; Vaden, Kenneth I KI; Steves, Claire J CJ; Williams, Frances M K FMK; Schulte, Bradley A BA; Dubno, Judy R JR; Steel, Karen P KP
Publication Date: 2023-04-29

Variant appearance in text: rs117064827
PubMed Link: 37163093
Variant Present in the following documents:
  • nihpp-2023.04.27.23289040v1.pdf
View BVdb publication page



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: S1PR2: 857T>A; Val286Asp
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page