NM_012463.4:c.294+1G>A

  1. Home
  2. NM_012463.4:c.294+1G>A

HGVS Expressions

  • NG_012743.1:g.15132G>A
  • NM_012463.4:c.294+1G>A

Associated Genes

ATPase, H+ Transporting, Lysosomal, V0 Subunit A2
Back to search Result
Genomic Location

chr12:123722449

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80356751

Clinvar

21499

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
278250.G.1Oman18PathogenicWrinkly Skin SyndromeKornak et al. 2008 9 patients from 3 Omani families
Download Table

Contributors

  • Sayeeda Hana: 17.08.2020

Edit History

  • Sayeeda Hana: 17.08.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.