NM_000089.4:c.1378G>A

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  2. NM_000089.4:c.1378G>A

HGVS Expressions

  • NG_007405.1:g.22535G>A
  • NM_000089.4:c.1378G>A
  • NP_000080.2:p.Gly460Ser
  • NC_000007.14:g.94412095G>A

Associated Genes

Collagen, Type I, Alpha-2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

72658118

Clinvar

526895

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
166220.1Saudi Arabia1NALikely PathogenicOsteogenesis Imperfecta, Type IVMaddirevula et al. 2018
166220.5Saudi Arabia1NAPathogenicOsteogenesis Imperfecta, Type IVMaddirevula et al. 2018 Patient's parents are from the same regi...
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Contributors

  • Asha Deepthi: 04.11.2021

Edit History

  • Asha Deepthi: 08.11.2021
  • Asha Deepthi: 07.11.2021
  • Asha Deepthi: 04.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.