NM_000089.4:c.821G>A

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  2. NM_000089.4:c.821G>A

HGVS Expressions

  • NG_007405.1:g.19790G>A
  • NM_000089.4:c.821G>A
  • NP_000080.2:p.Gly274Asp
  • NC_000007.14:g.94409350G>A

Associated Genes

Collagen, Type I, Alpha-2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

67675951

Clinvar

1071305

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
166220.4.1Saudi Arabia1NAPathogenicOsteogenesis Imperfecta, Type IVMaddirevula et al. 2018 Patient's parents are from the same trib...
166220.4.2Saudi Arabia1NAPathogenicOsteogenesis Imperfecta, Type IVMaddirevula et al. 2018 Relative of 166220.4.1; patient's parent...
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Contributors

  • Asha Deepthi: 08.11.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 08.02.2022
  • Asha Deepthi: 08.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.