NM_000784.4:c.1342C>T

HGVS Expressions

  • NG_007959.1:g.37875C>T
  • NM_000784.4:c.1342C>T
  • NP_000775.1:p.Arg448Cys
  • NC_000002.12:g.218814623C>T
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

183278

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
213700.2Syria2Likely PathogenicCerebrotendinous XanthomatosisAlazami et al. 2015 No cataract; normal cholesterol
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