NM_133642.5:c.1792G>A

  1. Home
  2. NM_133642.5:c.1792G>A

HGVS Expressions

  • NG_009929.2:g.642142G>A
  • NM_133642.5:c.1792G>A
  • NP_598397.1:p.Glu598Lys
  • NC_000022.11:g.33283287C>T

Associated Genes

Acetylglucosaminyltransferase-Like Protein
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

144045461

Clinvar

72928

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613154.1Saudi Arabia2PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6Shaheen et al. 2017 Subject had three paternal aunts and one...
Download Table

Contributors

  • Sayeeda Hana: 09.10.2022

Edit History

  • Sayeeda Hana: 09.10.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.