NM_004425.4:c.389C>T

  1. Home
  2. NM_004425.4:c.389C>T

HGVS Expressions

  • NG_012062.1:g.7869C>T
  • NM_004425.4:c.389C>T
  • NP_004416.2:p.Thr130Met
  • NC_000001.11:g.150510879C>T

Associated Genes

Extracellular Matrix Protein 1
Back to search Result
Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

3737240

Clinvar

1222321

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
247100.9Lebanon2Likely PathogenicLipoid Proteinosis of Urbach and WietheO'Blenes et al. 2015
Download Table

Contributors

  • Pratibha Nair: 30.06.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 30.06.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.