NM_001374377.1:c.509G>T

HGVS Expressions

  • NG_012833.1:g.20107G>T
  • NM_001374377.1:c.509G>T
  • NP_001361306.1:p.Gly170Val
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Genomic Location

chr15:80168105

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.G.3Saudi Arabia4PathogenicTyrosinemia, Type IImtiaz et al. 2011 2 patients from 2 Saudi Arabian families
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