NM_003632.3:c.1561dup

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HGVS Expressions

  • NG_042091.1:g.11367dup
  • NM_003632.3:c.1561dup
  • NP_003623.1:p.Leu521ProfsTer12
  • NC_000017.11:g.42688980dup

Associated Genes

Contactin-Associated Protein 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

1555642784

Clinvar

254173

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616286.2.1Qatar2PathogenicLethal Congenital Contracture Syndrome 7Lakhani et al. 2017 Has 2 similarly affected siblings, and 6...
616286.2.2Qatar2PathogenicLethal Congenital Contracture Syndrome 7Lakhani et al. 2017 Sibling of 616286.2.1
616286.2.3Qatar2PathogenicLethal Congenital Contracture Syndrome 7Lakhani et al. 2017 Sibling of 616286.2.1
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Contributors

  • Pratibha Nair: 05.09.2023

Edit History

  • Pratibha Nair: 05.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.