NM_000520.5:c.805G>A

HGVS Expressions

  • NG_009017.2:g.30662G>A
  • NM_000520.5:c.805G>A
  • NP_000511.2:p.Gly269Ser
  • NC_000015.10:g.72350518C>T

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

3898

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.1Iraq1PathogenicKarpati et al. 2004 Iraqi Jew
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