NM_002640.4:c.2T>C

HGVS Expressions

  • NG_052876.1:g.13283T>C
  • NM_002640.4:c.2T>C
  • NP_002631.3:p.Met1Thr
  • NC_000018.10:g.63978310T>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

254199

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617115.2United Arab Emirates2PathogenicPeeling Skin Syndrome 5Pigors et al. 2016
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