NM_001310338.2:c.456G>A

HGVS Expressions

  • NG_042236.1:g.6425G>A
  • NM_001310338.2:c.456G>A
  • NP_001297267.1:p.Trp152Ter
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Genomic Location

chr20:17970315

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

40051

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
615084.1.1Lebanon2PathogenicMitochondrial DNA Depletion Syndrome 11Kornblum et al. 2013
615084.1.2Lebanon2PathogenicMitochondrial DNA Depletion Syndrome 11Kornblum et al. 2013 Sibling of 615084.1.1
615084.1.3Lebanon2PathogenicMitochondrial DNA Depletion Syndrome 11Kornblum et al. 2013 Sibling of 615084.1.1
615084.1.4Lebanon1PathogenicKornblum et al. 2013 Father of 615084.1.1
615084.1.5Lebanon1PathogenicKornblum et al. 2013 Mother of 615084.1.1
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