NM_004614.5:c.635T>A

HGVS Expressions

  • NG_016862.1:g.41618T>A
  • NM_004614.5:c.635T>A
  • NP_004605.4:p.Ile212Asn
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Genomic Location

chr16:66513795

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

12709

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609560.2.1Palestine2PathogenicMitochondrial DNA Depletion Syndrome 2 (Myopathic Type)Saada et al. 2001 Several siblings died of a degenerative ...
609560.2.2Palestine1PathogenicSaada et al. 2001 Mother of 609560.2.1
609560.2.3Palestine1PathogenicSaada et al. 2001 Father of 609560.2.1
609560.3Palestine2PathogenicMitochondrial DNA Depletion Syndrome 2 (Myopathic Type)Saada et al. 2001 Several siblings died of a degenerative ...
609560.4Palestine2PathogenicMitochondrial DNA Depletion Syndrome 2 (Myopathic Type)Saada et al. 2001
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