NM_005807.6:c.1320dup

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HGVS Expressions

  • NG_008248.2:g.15754dup
  • NM_005807.6:c.1320dup
  • NP_005798.3:p.Lys441GlnfsTer198
  • NC_000001.11:g.186307039dup

Associated Genes

Proteoglycan 4
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Duplication

dbSNP

1557943002

Clinvar

987918

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208250.5United Arab Emirates2PathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeFathalla et al. 2021 Has a sibling with similar features
208250.G.1.1United Arab Emirates8Likely PathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeAkawi et al. 2012 4 patients from two branches of a consan...
208250.G.1.2United Arab EmiratesAkawi et al. 2012 Unaffected family members of patients fr...
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Contributors

    Edit History

    • Pratibha Nair: 12.01.2023
    • Pratibha Nair: 05.01.2023
    • Sami Bizzari: 26.12.2022
    • Sami Bizzari: 08.12.2022
    • Pratibha Nair: 21.11.2022
    • Pratibha Nair: 23.08.2022
    • Asha Deepthi: 21.06.2020
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    © CAGS 2024. All rights reserved.