NM_000153.4:c.1796T>G

HGVS Expressions

  • NG_011853.3:g.57131T>G
  • NM_000153.4:c.1796T>G
  • NP_000144.2:p.Ile599Ser

Associated Genes

Galactosylceramidase
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Genomic Location

chr14:87941433

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

30615

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
245200.2Palestine2PathogenicKrabbe DiseaseZlotogora et al. 1991; Zlotogora et al. 1985; Rafi et al. 1996 Patient belongs to a large Druze pedigre...
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