NM_000520.5:c.1511G>A

HGVS Expressions

  • NG_009017.2:g.35719G>A
  • NM_000520.5:c.1511G>A
  • NP_000511.2:p.Arg504His
  • NC_000015.10:g.72345461C>T

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

3895

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.3.1Kuwait2PathogenicTay-Sachs DiseaseSamilchuk, 2005 Family with at least 2 affected siblings...
272800.3.2Kuwait2PathogenicTay-Sachs DiseaseSamilchuk, 2005
272800.4Lebanon1PathogenicTay-Sachs DiseaseBoustany et al, 1991 Variant absent in father
272800.11Saudi Arabia2PathogenicTay-Sachs DiseaseKaya et al. 2011
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