NM_003880.4:c.707del

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HGVS Expressions

  • NG_011748.1:g.19248del
  • NM_003880.4:c.707del
  • NP_003871.1:p.Ser236ThrfsTer5
  • NC_000006.12:g.112068322del

Associated Genes

Cellular Communication Network Factor 6
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1583586843

Clinvar

817946

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208230.10Yemen2NAPathogenicProgressive Pseudorheumatoid DysplasiaMahfouz et al. 2020
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Contributors

  • Asha Deepthi: 20.07.2022

Edit History

  • Asha Deepthi: 20.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.