NM_017653.6:c.1878del

HGVS Expressions

  • NG_009239.2:g.421547del
  • NM_017653.6:c.1878del
  • NP_060123.3:p.Lys626AsnfsTer94
  • NC_000018.10:g.49044189del

Associated Genes

Dymeclin
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

3191

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
223800.2Morocco2NALikely PathogenicDyggve-Melchior-Clausen DiseaseEl Ghouzzi et al. 2003 Patient from Family 5 in the publication
223800.12Egypt2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018
223801.13Egypt2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018
223801.17Egypt2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018
223800.G.2Morocco6NALikely PathogenicDyggve-Melchior-Clausen DiseaseEl Ghouzzi et al. 2003 3 patients from Family 3 in the publicat...
223800.G.3Morocco4NALikely PathogenicDyggve-Melchior-Clausen DiseaseEl Ghouzzi et al. 2003 2 patients from Family 4 in the publicat...
223800.G.4Morocco1NALikely PathogenicDyggve-Melchior-Clausen DiseaseEl Ghouzzi et al. 2003 2 patients from Family 6 in the publicat...
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