NM_017653.4:c.1447C>T

HGVS Expressions

  • NG_009239.2:g.208711C>T
  • NM_017653.4:c.1447C>T
  • NP_060123.3:p.Gln483Ter
  • NC_000018.10:g.49257023G>A

Associated Genes

Dymeclin
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
223800.G.1Morocco4NALikely PathogenicDyggve-Melchior-Clausen DiseaseEl Ghouzzi et al. 2003 2 patients from Family 2 in the publicat...
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