NM_000088.4:c.2127+2T>A

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HGVS Expressions

  • NG_007400.1:g.14854T>A
  • NM_000088.4:c.2127+2T>A
  • NC_000017.11:g.50191786A>T

Associated Genes

Collagen, Type I, Alpha-1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

72651644

Clinvar

574055

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
166200.3.1Saudi Arabia1NAPathogenicOsteogenesis Imperfecta, Type IMaddirevula et al. 2018 Patient's parents are from the same trib...
166200.3.2Saudi Arabia1NAPathogenicOsteogenesis Imperfecta, Type IMaddirevula et al. 2018 Relative of 166200.3.1. Patient's parent...
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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.