NM_005807.6:c.3125_3128del

HGVS Expressions

  • NG_008248.2:g.17559_17562
  • NM_005807.6:c.3125_3128del
  • NP_005798.3:p.Val1043Glufs*12

Associated Genes

Proteoglycan 4
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Genomic Location

chr1:186308844-186308847

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208250.3Saudi Arabia2Camptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeAlazami et al. 2006 Patient 3 in the publication
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