NM_001162498.3:c.565G>A

HGVS Expressions

  • NG_012874.1:g.37846G>A
  • NM_001162498.3:c.565G>A
  • NP_001155970.1:p.Glu189Lys
  • NC_000013.11:g.48411859C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1829

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
278150.1United Arab Emirates2PathogenicHypotrichosis 8Saleh et al. 2021 Affected cousin
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