NM_005184.4:c.421G>A

HGVS Expressions

  • NG_051331.1:g.12908G>A
  • NM_005184.4:c.421G>A
  • NP_005175.2:p.Glu141Lys
  • NC_000019.10:g.46608981G>A

Associated Genes

Calmodulin 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

812678

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618782.1Saudi Arabia1NAPathogenicLong QT Syndrome 16Wren et al. 2019 Patient from 'family B' in the publicati...
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