14 kb Del NC_000020.11:g.25383511_25397601delinsGG

HGVS Expressions

  • NC_000020.11:g.25383511_25397601delinsGG
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Clinvar

25

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612674.2.1United Arab Emirates2PathogenicPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and CataractFiskerstrand et al. 2010
612674.2.2United Arab Emirates2PathogenicPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and CataractFiskerstrand et al. 2010 Relative of 612674.2.1
612674.2.3United Arab Emirates2PathogenicPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and CataractFiskerstrand et al. 2010 Relative of 612674.2.1
© CAGS 2024. All rights reserved.