NM_000088.4:c.2299G>A

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HGVS Expressions

  • NG_007400.1:g.15779G>A
  • NM_000088.4:c.2299G>A
  • NP_000079.2:p.Gly767Ser
  • NC_000017.11:g.50190861C>T

Associated Genes

Collagen, Type I, Alpha-1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

72651658

Clinvar

546096

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
166200.2Egypt1NAPathogenicOsteogenesis Imperfecta, Type IMaddirevula et al. 2018 De novo mutation
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Contributors

  • Asha Deepthi: 03.11.2021

Edit History

  • Asha Deepthi: 03.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.