NM_001146289.1:c.1365_1366delinsC

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HGVS Expressions

  • NG_008123.1:g.19440_19441delinsC
  • NM_001146289.1:c.1365_1366delinsC
  • NP_001139761.1:p.Glu455AspfsTer7
  • NC_000001.11:g.42752644_42752645delinsG

Associated Genes

Prolyl 3-Hydroxylase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

dbSNP

137853952

Clinvar

1257

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610915.1Lebanon2PathogenicOsteogenesis Imperfecta, Type VIIIWillaert et al. 2009
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Contributors

  • Pratibha Nair: 13.07.2021

Edit History

  • Pratibha Nair: 13.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.