NM_024876.4:c.293T>G

HGVS Expressions

  • NG_027800.1:g.11753T>G
  • NM_024876.4:c.293T>G
  • NP_079152.3:p.Leu98Arg

Associated Genes

Coenzyme Q8B
Back to search Result
Genomic Location

chr19:40710133

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615573.1.1Arab2PathogenicNephrotic Syndrome, Type 9Korkmaz et al, 2016
615573.1.2Arab2PathogenicNephrotic Syndrome, Type 9Korkmaz et al, 2016 Brother of 615573.1.1
615573.3.1Arab2PathogenicNephrotic Syndrome, Type 9Korkmaz et al, 2016
615573.3.2Arab2PathogenicNephrotic Syndrome, Type 9Korkmaz et al, 2016 Sister of 615573.3.1
© CAGS 2024. All rights reserved.