TSPEAR c.88C>T ;(p.R30C)

Variant ID: 21-45987884-G-A

NM_144991.2(TSPEAR):c.88C>T;(p.R30C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Human Genetics
Florentine, Michelle M MM; Rouse, Stephanie L SL; Stephans, Jihyun J; Conrad, David D; Czechowicz, Josephine J; Matthews, Ian R IR; Meyer, Anna K AK; Nadaraja, Garani S GS; Parikh, Rajan R; Virbalas, Jordan J; Weinstein, Jacqueline E JE; Chan, Dylan K DK
Publication Date: 2022-04

Variant appearance in text: TSPEAR: 88C>T; R30C
PubMed Link: 34515852
Variant Present in the following documents:
  • 439_2021_2338_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Eisenberger, Tobias T; Di Donato, Nataliya N; Decker, Christian C; Delle Vedove, Andrea A; Neuhaus, Christine C; Nürnberg, Gudrun G; Toliat, Mohammad M; Nürnberg, Peter P; Mürbe, Dirk D; Bolz, Hanno Jörn HJ
Publication Date: 2018-06

Variant appearance in text: TSPEAR: 88C>T; Arg30Cys; rs138759270
PubMed Link: 29309402
Variant Present in the following documents:
  • Main text
  • gim2017155x6.pdf
  • gim2017155a.pdf
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: TSPEAR: R30C; rs138759270
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 7
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: TSPEAR: R30C; rs138759270
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page