NM_012463.4:c.1929del

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  2. NM_012463.4:c.1929del

HGVS Expressions

  • NG_012743.1:g.41462del
  • NM_012463.4:c.1929del
  • NP_036595.2:p.Gln645fs

Associated Genes

ATPase, H+ Transporting, Lysosomal, V0 Subunit A2
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Genomic Location

chr12:123748779

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

80356756

Clinvar

21495

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
278250.G.2Oman4PathogenicWrinkly Skin SyndromeKornak et al. 2008 2 members of an Omani family
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Contributors

  • Sayeeda Hana: 17.08.2020

Edit History

  • Sayeeda Hana: 17.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.