NM_001159773.2:c.902_906dup

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HGVS Expressions

  • NG_016645.1:g.20959GCGCC[3]
  • NM_001159773.2:c.902_906dup
  • NP_001153245.1:p.Ser303fs
  • NC_000017.11:g.78993853GCGGC[3]

Associated Genes

Calcium-Activated Nucleotidase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Microsatellite

dbSNP

587776895

Clinvar

31013

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251450.1Saudi Arabia2NAPathogenicDesbuquois Dysplasia 1Maddirevula et al. 2018
251450.2Saudi Arabia2NAPathogenicDesbuquois Dysplasia 1Maddirevula et al. 2018
251450.3Syria2NAPathogenicDesbuquois Dysplasia 1Maddirevula et al. 2018
251450.4.1Saudi Arabia2NAPathogenicDesbuquois Dysplasia 1Maddirevula et al. 2018
251450.4.2Saudi Arabia2NAPathogenicDesbuquois Dysplasia 1Maddirevula et al. 2018 Relative of 251450.4.1
251450.5Saudi Arabia2NAPathogenicDesbuquois Dysplasia 1Maddirevula et al. 2018
251450.6Saudi Arabia2NAPathogenicDesbuquois Dysplasia 1Maddirevula et al. 2018
251450.11Morocco2NAPathogenicDesbuquois Dysplasia 1Huber et al. 2009 Patient from 'family 8' in the publicati...
251450.12Saudi Arabia2Likely PathogenicDesbuquois Dysplasia 1 Fetus
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Contributors

  • Asha Deepthi: 27.10.2021

Edit History

  • Pratibha Nair: 13.12.2023
  • Asha Deepthi: 28.07.2022
  • Asha Deepthi: 27.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.