NM_198239.2:c.740_741del

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HGVS Expressions

  • NG_011748.1:g.19279GT[1]
  • NM_198239.2:c.740_741del
  • NP_937882.2:p.Cys247LeufsTer31
  • NC_000006.12:g.112068353GT[1]

Associated Genes

Cellular Communication Network Factor 6
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

727503755

Clinvar

166615

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208230.9Egypt2NALikely PathogenicProgressive Pseudorheumatoid DysplasiaMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 24.02.2022

Edit History

  • Asha Deepthi: 24.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.