NM_003183.5:c.603_606delCAGA

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  2. NM_003183.5:c.603_606delCAGA

HGVS Expressions

  • NG_029873.1:g.32987_32990delCAGA
  • NM_003183.5:c.603_606delCAGA
  • NP_003174.3:p.Asp201Glufs

Associated Genes

A Disintegrin and Metalloproteinase Domain 17
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Genomic Location

chr2:9527802-9527805

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

387906866

Clinvar

30374

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614328.1.1Lebanon2PathogenicInflammatory Skin and Bowel Disease, Neonatal, 1Blaydon et al, 2011
614328.1.2Lebanon2PathogenicInflammatory Skin and Bowel Disease, Neonatal, 1Blaydon et al, 2011 Brother of 614328.1.1
614328.1.3Lebanon1PathogenicBlaydon et al, 2011 Mother of 614328.1.1
614328.1.4Lebanon1PathogenicBlaydon et al, 2011 Father of 614328.1.1
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Contributors

  • Pratibha Nair: 29.08.2019

Edit History

  • Sayeeda Hana: 26.09.2020
  • Pratibha Nair: 29.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.