NM_000153.4:c.1630G>A

HGVS Expressions

  • NG_011853.3:g.52971G>A
  • NM_000153.4:c.1630G>A
  • NP_000144.2:p.Asp544Asn

Associated Genes

Galactosylceramidase
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Genomic Location

chr14:87945593

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

30614

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
245200.1Palestine2PathogenicKrabbe DiseaseZlotogora et al. 1991; Rafi et al. 1996 Patient belongs to a large Arab muslim p...
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