NM_000396.4:c.244-29A>G

  1. Home
  2. NM_000396.4:c.244-29A>G

HGVS Expressions

  • NG_011848.1:g.7292A>G
  • NM_000396.4:c.244-29A>G
  • NC_000001.11:g.150806045T>C

Associated Genes

Cathepsin K
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1654085401

Clinvar

982106

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
265800.1.1Saudi Arabia2NALikely PathogenicPycnodysostosisMaddirevula et al. 2018
265800.1.2Saudi Arabia2NALikely PathogenicPycnodysostosisMaddirevula et al. 2018 Relative of 265800.1.1
265800.G.1Saudi Arabia10NALikely PathogenicPycnodysostosisMaddirevula et al. 2018 Five related patients
Download Table

Contributors

  • Asha Deepthi: 09.11.2021

Edit History

  • Asha Deepthi: 09.11.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.