NM_001374377.1:c.1156G>C

HGVS Expressions

  • NG_012833.1:g.33137G>C
  • NM_001374377.1:c.1156G>C
  • NP_001361306.1:p.Asp386His
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Genomic Location

chr15:80181135

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

552656

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
276700.2United Arab Emirates2PathogenicTyrosinemia, Type IAl-Shamsi et al. 2014
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