NM_002860.4:c.412C>T

  1. Home
  2. NM_002860.4:c.412C>T

HGVS Expressions

  • NG_012258.1:g.24483C>T
  • NM_002860.4:c.412C>T
  • NP_001310343.1:p.Arg138Trp
  • NC_000010.11:g.95637328G>A

Associated Genes

Aldehyde Dehydrogenase 18 Family, Member A1
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

863225044

Clinvar

217259

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616603.1Jordan1PathogenicCutis Laxa, Autosomal Dominant 3Fischer-Zirnsak et al. 2015
Download Table

Contributors

  • Sayeeda Hana: 13.07.2021

Edit History

  • Sayeeda Hana: 13.07.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.