NM_017653.4:c.1252-1G>A

HGVS Expressions

  • NG_009239.2:g.207240G>A
  • NM_017653.4:c.1252-1G>A
  • NP_060123.3:p.?
  • NC_000018.10:g.49258494C>T

Associated Genes

Dymeclin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

3190

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
223800.3Lebanon2NALikely PathogenicDyggve-Melchior-Clausen DiseaseThauvin-Robinet et al. 2002; El Ghouzzi et al. 2003 Patient from Family 9 in the publication...
223800.4Lebanon2NALikely PathogenicDyggve-Melchior-Clausen DiseaseEl Ghouzzi et al. 2003 Patient from Family 10 in the publicatio...
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