NM_005807.6:c.3139_3140del

HGVS Expressions

  • NG_008248.2:g.17573_17574del
  • NM_005807.6:c.3139_3140del
  • NP_005798.3:p.Lys1047fs

Associated Genes

Proteoglycan 4
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Genomic Location

chr1:186308858-186308859

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

800914

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208250.1.1Saudi Arabia1PathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeAlazami et al. 2006 Patient 1a in the publication
208250.1.2Saudi Arabia1PathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeAlazami et al. 2006 Patient 1b in the publication, brother o...
208250.1.3Saudi Arabia1PathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeAlazami et al. 2006 Patient 1c in the publication, brother o...
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