NM_001374377.1:c.782C>T

HGVS Expressions

  • NG_012833.1:g.25091C>T
  • NM_001374377.1:c.782C>T
  • NP_001361306.1:p.Pro261Leu
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Genomic Location

chr15:80173089

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

21058

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276700.G.6Saudi Arabia8PathogenicTyrosinemia, Type IImtiaz et al. 2011 4 patients from Egypt and Saudi Arabia
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