NM_000520.5:c.496C>G

HGVS Expressions

  • NG_009017.2:g.28038C>G
  • NM_000520.5:c.496C>G
  • NP_000511.2:p.Arg166Gly
  • NC_000015.10:g.72353142G>C

Associated Genes

Hexosaminidase A
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.16Syria1PathogenicTay-Sachs DiseasePeleg et al. 1995 Compound heterozygous
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