NM_022356.4:c.570_571del

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HGVS Expressions

  • NG_008123.1:g.9714_9715del
  • NM_022356.4:c.570_571del
  • NP_071751.3:p.Gly191SerfsTer10
  • NC_000001.11:g.42762370_42762371del

Associated Genes

Prolyl 3-Hydroxylase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1553143741

Clinvar

522436

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610915.7Saudi Arabia2NALikely PathogenicOsteogenesis Imperfecta, Type VIIIMaddirevula et al. 2018
147557.G.1Saudi Arabia2Monies et al. 2017 Couple with heterozygous variants in ITG...
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Contributors

  • Asha Deepthi: 30.12.2021

Edit History

  • Asha Deepthi: 15.11.2024
  • Asha Deepthi: 30.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.