NM_017653.6:c.1860+1G>A

  1. Home
  2. NM_017653.6:c.1860+1G>A

HGVS Expressions

  • NG_009239.2:g.368333G>A
  • NM_017653.6:c.1860+1G>A
  • NC_000018.10:g.49097401C>T

Associated Genes

Dymeclin
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205511

Clinvar

191091

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607326.G.1Saudi Arabia6NAPathogenicSmith-Mccort Dysplasia 1Maddirevula et al. 2018 Three related patients
Download Table

Contributors

  • Asha Deepthi: 15.11.2021

Edit History

  • Asha Deepthi: 15.11.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.