NM_005807.4:c.3254_3260dup

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HGVS Expressions

  • NG_008248.2:g.17674CCAAACT[4]
  • NM_005807.4:c.3254_3260dup
  • NP_005798.3:p.Val1088GlnfsTer4
  • NC_000001.11:g.186308959CCAAACT[4]

Associated Genes

Proteoglycan 4
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

769917456

Clinvar

974887

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208250.6United Arab Emirates2PathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeFathalla et al. 2021
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Contributors

  • Sami Bizzari: 27.01.2022

Edit History

  • Sami Bizzari: 04.02.2023
  • Sami Bizzari: 01.02.2022
  • Sami Bizzari: 27.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.