NM_001244189.2:c.230C>G

HGVS Expressions

  • NG_051335.2:g.6074C>G
  • NM_001244189.2:c.230C>G
  • NP_001231118.1:p.Ser77Ter

Associated Genes

KIAA0586 Gene
Back to search Result
Genomic Location

chr14:58428458

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

208812

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616546.1.1Lebanon2PathogenicShort-Rib Thoracic Dysplasia 14 With PolydactylyAlby et al. 2015 15-week gestational age fetus
616546.1.2Lebanon2PathogenicShort-Rib Thoracic Dysplasia 14 With PolydactylyAlby et al. 2015 15-week gestational age fetus; sibling o...
616546.1.3Lebanon1PathogenicAlby et al. 2015 Mother of 616546.1.1
616546.1.4Lebanon1PathogenicAlby et al. 2015 Father of 616546.1.1
© CAGS 2024. All rights reserved.