NM_001374377.1:c.374C>G

HGVS Expressions

  • NG_012833.1:g.14257C>G
  • NM_001374377.1:c.374C>G
  • NP_001361306.1:p.Thr125Arg
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Genomic Location

chr15:80162255

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
276700.4Egypt2PathogenicTyrosinemia, Type IImtiaz et al. 2011
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