NM_003880.3:c.156C>A

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HGVS Expressions

  • NG_011748.1:g.12024C>A
  • NM_003880.3:c.156C>A
  • NP_003871.1:p.Cys52Ter
  • NC_000006.12:g.112061098C>A

Associated Genes

Cellular Communication Network Factor 6
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908901

Clinvar

6381

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208230.1Syria2NAPathogenicProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 Patient from 'Family 2' in the publicati...
208230.2Lebanon2NAPathogenicProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 Patient from 'Family 3' in the publicati...
208230.3Lebanon2NAPathogenicProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 Patient from 'Family 8' in the publicati...
208230.G.1.2Lebanon2NAPathogenicProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 2 siblings from 'Family 4' in the public...
208230.G.1.3Syria2NAPathogenicProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 2 siblings from 'Family 5' in the public...
208230.G.1.4Syria2NAPathogenicProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 4 siblings from 'Family 6' in the public...
208230.G.1.5Palestine2NAPathogenicProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 3 patients from 'Family 7' in the public...
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Contributors

    Edit History

    • Asha Deepthi: 15.03.2021
    • Asha Deepthi: 18.02.2019
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    © CAGS 2024. All rights reserved.