NM_001159773.2:c.531_532del

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HGVS Expressions

  • NG_016645.1:g.17724CT[1]
  • NM_001159773.2:c.531_532del
  • NP_001153245.1:p.Tyr178LeufsTer4
  • NC_000017.11:g.78997091AG[1]

Associated Genes

Calcium-Activated Nucleotidase 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

766493688

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251450.9Yemen2Likely PathogenicDesbuquois Dysplasia 1Nizon et al. 2012
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Contributors

  • Pratibha Nair: 06.07.2022

Edit History

  • Pratibha Nair: 06.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.