NM_003880.3:c.248G>A

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HGVS Expressions

  • NG_011748.1:g.12116G>A
  • NM_003880.3:c.248G>A
  • NP_003871.1:p.Gly83Glu
  • NC_000006.12:g.112061190G>A

Associated Genes

Cellular Communication Network Factor 6
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

147337485

Clinvar

638295

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208230.1Syria2NAUncertain SignificanceProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 Patient from 'Family 2' in the publicati...
208230.2Lebanon2NAUncertain SignificanceProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 Patient from 'Family 3' in the publicati...
208230.3Lebanon2NAUncertain SignificanceProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 Patient from 'Family 8' in the publicati...
208230.G.1.2Lebanon2NAUncertain SignificanceProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 2 siblings from 'Family 4' in the public...
208230.G.1.3Syria2NAUncertain SignificanceProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 2 siblings from 'Family 5' in the public...
208230.G.1.4Syria2NAUncertain SignificanceProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 4 siblings from 'Family 6' in the public...
208230.G.1.5Palestine2NAUncertain SignificanceProgressive 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.