NM_001374377.1:c.607-1G>A

HGVS Expressions

  • NG_012833.1:g.24150G>A
  • NM_001374377.1:c.607-1G>A
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Genomic Location

chr15:80172148

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

188755

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276700.G.4Egypt6PathogenicTyrosinemia, Type IImtiaz et al. 2011 3 patients from Egypt and Saudi Arabia
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