NM_001142633.3:c.1885C>T

  1. Home
  2. NM_001142633.3:c.1885C>T

HGVS Expressions

  • NG_030374.1:g.83597C>T
  • NM_001142633.3:c.1885C>T
  • NP_001136105.1:p.Pro629Ser
  • NC_000017.11:g.8887116G>A

Associated Genes

Phosphatidylinositol 3-Kinase, Regulatory Subunit 5
Back to search Result
Clinvar Clinical Significance

Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

61761068

Clinvar

48651

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615217.1.1Saudi Arabia2Uncertain SignificanceAtaxia-Oculomotor Apraxia 3Al Tassan et al. 2012
615217.1.2Saudi Arabia2Uncertain SignificanceAtaxia-Oculomotor Apraxia 3Al Tassan et al. 2012 Brother of 615217.1.1
615217.1.3Saudi Arabia2Uncertain SignificanceAtaxia-Oculomotor Apraxia 3Al Tassan et al. 2012 Sister of 615217.1.1
615217.1.4Saudi Arabia2Uncertain SignificanceAtaxia-Oculomotor Apraxia 3Al Tassan et al. 2012 Sister of 615217.1.1
615217.1.GSaudi Arabia9Al Tassan et al. 2012 Relatives of 615217.1.1 (parents + seven...
Download Table

Contributors

  • Asha Deepthi: 28.03.2023

Edit History

  • Asha Deepthi: 28.03.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.