NM_000784.4:c.1342C>T

  1. Home
  2. NM_000784.4:c.1342C>T

HGVS Expressions

  • NG_007959.1:g.37875C>T
  • NM_000784.4:c.1342C>T
  • NP_000775.1:p.Arg448Cys
  • NC_000002.12:g.218814623C>T

Associated Genes

Cytochrome P450, Subfamily XXVIIA, Polypeptide 1
Back to search Result
Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

730882199

Clinvar

183278

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
213700.2Syria2Likely PathogenicCerebrotendinous XanthomatosisAlazami et al. 2015 No cataract; normal cholesterol
Download Table

Contributors

  • Pratibha Nair: 11.05.2023

Edit History

  • Pratibha Nair: 18.10.2023
  • Pratibha Nair: 11.05.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.