NM_017653.6:c.946+1G>A

HGVS Expressions

  • NG_009239.2:g.179301G>A
  • NM_017653.6:c.946+1G>A
  • NC_000018.10:g.49286433C>T

Associated Genes

Dymeclin
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

191093

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
223800.10Egypt2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018
© CAGS 2024. All rights reserved.