NM_001374377.1:c.1001C>T

HGVS Expressions

  • NG_012833.1:g.32166C>T
  • NM_001374377.1:c.1001C>T
  • NP_001361306.1:p.Ser334Phe
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Genomic Location

chr15:80180164

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276700.6Saudi Arabia2PathogenicTyrosinemia, Type IImtiaz et al. 2011
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