NM_006371.5:c.826C>T

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HGVS Expressions

  • NG_008122.1:g.21014C>T
  • NM_006371.5:c.826C>T
  • NP_006362.1:p.Gln276Ter
  • NC_000003.12:g.33129971C>T

Associated Genes

Cartilage-Associated Protein
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

72659361

Clinvar

4950

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610682.1Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type VIIMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 09.11.2021

Edit History

  • Asha Deepthi: 09.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.