NM_016941.4:c.594_598GCGGT[3]

HGVS Expressions

  • NG_008256.1:g.9083_9087GCGGT[3]
  • NM_016941.4:c.594_598GCGGT[3]
  • NP_058637.1:p.Pro202Alafs

Associated Genes

Delta-Like 3
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Genomic Location

chr19:39503008_39503003

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

6828

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277300.1.1Palestine2PathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Turnpenny et al. 1999; Bulman et al, 2000 1 healthy sister who lacks the mutation.
277300.1.2Palestine1PathogenicTurnpenny et al. 1999; Turnpenny et al, 2003; Bulman et al, 2000 Sister of 277300.1.1. Her affected son i...
277300.1.3Palestine2PathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Turnpenny et al. 1999; Turnpenny et al, 2003; Bulman et al, 2000 Sibling of 277300.1.1
277300.1.4Palestine2PathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Turnpenny et al. 1999; Bulman et al, 2000 Sibling of 277300.1.1
277300.1.5Palestine1PathogenicTurnpenny et al. 1999; Turnpenny et al, 2003; Bulman et al, 2000 wife of 277300.1.3
277300.1.6Palestine2PathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Turnpenny et al. 1999; Bulman et al, 2000 Fourth cousins once removed to 277300.1....
277300.1.7Palestine1PathogenicTurnpenny et al. 1999; Turnpenny et al, 2003; Bulman et al, 2000 Parent of 277300.1.6
277300.1.8Palestine1PathogenicTurnpenny et al. 1999; Turnpenny et al, 2003; Bulman et al, 2000 Parent of 277300.1.6
277300.1.9Palestine2PathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Turnpenny et al. 1999; Bulman et al, 2000 Fourth cousins once removed to 277300.1....
277300.1.10Palestine1PathogenicTurnpenny et al. 1999; Turnpenny et al, 2003; Bulman et al, 2000 Parent of 277300.1.9
277300.1.11Palestine1PathogenicTurnpenny et al. 1999; Turnpenny et al, 2003; Bulman et al, 2000 Parent of 277300.1.9
277300.1.12Palestine2PathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Turnpenny et al. 1999; Turnpenny et al, 2003; Bulman et al, 2000 Nephew of 277300.1.1; son of 277300.1.4 ...
277300.1.13Palestine1PathogenicTurnpenny et al. 1999; Turnpenny et al, 2003; Bulman et al, 2000 sibling of 277300.1.12
277300.1.14Palestine1PathogenicTurnpenny et al. 1999; Turnpenny et al, 2003; Bulman et al, 2000 Husband of 277300.1.2. His affected son ...
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