NM_031296.3:c.136A>C

  1. Home
  2. NM_031296.3:c.136A>C

HGVS Expressions

  • NG_051587.1:g.6100A>C
  • NM_031296.3:c.136A>C
  • NP_112586.1:p.Lys46Gln
  • NC_000004.12:g.139454331A>C

Associated Genes

Ras-Associated Protein RAB33B
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

587776958

Clinvar

50230

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615222.1Saudi Arabia2Likely PathogenicSmith-Mccort Dysplasia 2Monies et al. 2017
615222.2Saudi Arabia2Likely PathogenicSmith-Mccort Dysplasia 2Monies et al. 2019
615222.G.1Saudi Arabia8Likely PathogenicSmith-Mccort Dysplasia 2Maddirevula et al. 2018 Four related patients
Download Table

Contributors

  • Asha Deepthi: 11.02.2022

Edit History

  • Asha Deepthi: 19.11.2024
  • Pratibha Nair: 21.11.2023
  • Asha Deepthi: 11.02.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.