NM_000860.6:c.468T>A

HGVS Expressions

  • NG_011689.1:g.32064T>A
  • NM_000860.6:c.468T>A
  • NP_000851.2:p.His156Gln
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Genomic Location

chr4:174495578

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
144200.1Lebanon2PathogenicPalmoplantar Keratoderma, EpidermolyticStephan et al. 2018
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