NM_000521.3:c.1627G>A

HGVS Expressions

  • NG_009770.2:g.86109G>A
  • NM_000521.3:c.1627G>A
  • NP_000512.1:p.Ala543Thr
  • NC_000005.10:g.74721131G>A

Associated Genes

Hexosaminidase B
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

3881

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.1.1Palestine2Likely BenignTay-Sachs DiseaseNarkis et al. 1997
272800.1.2Palestine2Likely BenignTay-Sachs DiseaseNarkis et al. 1997 First degree cousin of 272800.1.1
272800.1.3Palestine1Likely BenignTay-Sachs DiseaseNarkis et al. 1997 Maternal uncle of 272800.1.1
272800.1.4Palestine1Likely BenignTay-Sachs DiseaseNarkis et al. 1997 Father of 272800.1.1
272800.1.5Palestine1Likely BenignTay-Sachs DiseaseNarkis et al. 1997 Mother of 272800.1.1
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