NM_005807.6:c.3277_3278del

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HGVS Expressions

  • NG_008248.2:g.17711_17712del
  • NM_005807.6:c.3277_3278del
  • NP_005798.3:p.Lys1093fs

Associated Genes

Proteoglycan 4
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Genomic Location

chr1:186308996-186308997

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1258207620

Clinvar

684666

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208250.4.1Saudi Arabia2PathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeAlazami et al. 2006 Patient 4a in the publication
208250.4.2Saudi Arabia2PathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeAlazami et al. 2006 Patient 4b in the publication, sister of...
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Contributors

    Edit History

    • Sayeeda Hana: 05.10.2020
    • Asha Deepthi: 21.06.2020
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.