NM_000521.3:c.884C>G

HGVS Expressions

  • NG_009770.2:g.78596C>G
  • NM_000521.3:c.[884C>G;]
  • NP_000512.1:p.Thr295Arg
  • NC_000005.10:g.74713618C>G

Associated Genes

Hexosaminidase B
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268800.G.1Lebanon6Likely PathogenicSandhoff DiseaseAl-Jasmi et al. 2013 6 compound heterozygous Lebanese patient...
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