NM_003880.3:c.48+2dup

  1. Home
  2. NM_003880.3:c.48+2dup

HGVS Expressions

  • NG_011748.1:g.5333dup
  • NM_003880.3:c.48+2dup
  • NC_000006.12:g.112054407dup

Associated Genes

Cellular Communication Network Factor 6
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

797044439

Clinvar

6384

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208230.7Jordan2NALikely PathogenicProgressive Pseudorheumatoid DysplasiaHurvitz et al. 1999 Patient from 'Family 8' in the publicati...
Download Table

Contributors

    Edit History

    • Asha Deepthi: 15.03.2021
    • Asha Deepthi: 18.02.2019
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.