NM_000089.4:c.3043G>A

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HGVS Expressions

  • NG_007405.1:g.36908G>A
  • NM_000089.4:c.3043G>A
  • NP_000080.2:p.Gly1015Arg
  • NC_000007.14:g.94426468G>A

Associated Genes

Collagen, Type I, Alpha-2
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

72659320

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
166220.3Saudi Arabia1NAPathogenicOsteogenesis Imperfecta, Type IVMaddirevula et al. 2018 De novo mutation
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Contributors

  • Asha Deepthi: 08.11.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Asha Deepthi: 08.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.