NM_001159773.2:c.899G>A

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HGVS Expressions

  • NG_016645.1:g.20961G>A
  • NM_001159773.2:c.899G>A
  • NP_001153245.1:p.Arg300His
  • NC_000017.11:g.78993857C>T

Associated Genes

Calcium-Activated Nucleotidase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

267606699

Clinvar

280

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251450.10United Arab Emirates2NAPathogenicDesbuquois Dysplasia 1Huber et al. 2009 Patient from 'family 7' in the publicati...
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Contributors

  • Asha Deepthi: 28.07.2022

Edit History

  • Asha Deepthi: 28.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.