NM_000520.5:c.749G>T

HGVS Expressions

  • NG_009017.2:g.30606G>T
  • NM_000520.5:c.749G>T
  • NP_000511.2:p.Gly250Val
  • NC_000015.10:g.72350574C>A

Associated Genes

Hexosaminidase A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

557210

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.5.1Lebanon2PathogenicTay-Sachs DiseaseTrop et al. 1992 Sibling of 272800.5.2
272800.5.2Lebanon2PathogenicTay-Sachs DiseaseTrop et al. 1992 Sibling of 272800.5.1
272800.5.3Lebanon1PathogenicTrop et al. 1992 Mother of 272800.5.1 and 272800.5.2
272800.5.4Lebanon1PathogenicTrop et al. 1992 Father of 272800.5.1 and 272800.5.2
272800.G.2Iraq24PathogenicKarpati et al. 2004 24 Iraqi Jews
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