NM_001025295.3:c.-14C>T

  1. Home
  2. NM_001025295.3:c.-14C>T

HGVS Expressions

  • NG_032892.1:g.5023C>T
  • NM_001025295.3:c.-14C>T
  • NC_000011.10:g.299504G>A

Associated Genes

Interferon-Induced Transmembrane Protein 5
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

587776916

Clinvar

37143

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610967.1Saudi Arabia1NALikely PathogenicOsteogenesis Imperfecta, Type VMaddirevula et al. 2018 De novo mutation
610968.2Saudi Arabia1NALikely PathogenicOsteogenesis Imperfecta, Type VMaddirevula et al. 2018 De novo mutation
Download Table

Contributors

  • Asha Deepthi: 23.12.2021

Edit History

  • Asha Deepthi: 23.12.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.