NM_000520.5:c.1277_1278insTATC

HGVS Expressions

  • NG_009017.2:g.34597_34600dup
  • NM_000520.5:c.1277_1278insTATC
  • NP_000511.2:p.Tyr427IlefsTer5
  • NC_000015.10:g.72346580_72346583dup

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

Clinvar

3889

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.17Morocco1Kaufman et al. 1997 Moroccan Jewish carrier
272800.G.3Iraq3PathogenicKarpati et al. 2004 3 Iraqi Jews
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