NM_000088.4:c.299-2A>G

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HGVS Expressions

  • NG_007400.1:g.7048A>G
  • NM_000088.4:c.299-2A>G
  • NC_000017.11:g.50199592T>C

Associated Genes

Collagen, Type I, Alpha-1
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
166200.4.1Saudi Arabia1NAPathogenicOsteogenesis Imperfecta, Type IMaddirevula et al. 2018
166200.4.2Saudi Arabia1NAPathogenicOsteogenesis Imperfecta, Type IMaddirevula et al. 2018 Relative of 166200.4.1
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Contributors

  • Asha Deepthi: 03.11.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Asha Deepthi: 03.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.