NM_022154.5:c.338G>C

  1. Home
  2. NM_022154.5:c.338G>C

HGVS Expressions

  • NG_047177.1:g.34787G>C
  • NM_022154.5:c.338G>C
  • NP_071437.3:p.Cys113Ser

Associated Genes

Solute Carrier Family 39 (Zinc Transporter), Member 8
Back to search Result
Genomic Location

chr4:102315712

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1444255127

Clinvar

869411

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616721.1.1Lebanon2PathogenicCongenital Disorder of Glycosylation, Type IInRiley et al, 2017 Proband
616721.1.2Lebanon2PathogenicCongenital Disorder of Glycosylation, Type IInRiley et al, 2017 Sister of 616721.1.1
616721.1.3Lebanon1PathogenicRiley et al, 2017 Father of 616721.1.1
616721.1.4Lebanon1PathogenicRiley et al, 2017 Mother of 616721.1.1
616721.1.5Lebanon1PathogenicRiley et al, 2017 Brother of 616721.1.1
Download Table

Contributors

  • Sayeeda Hana: 27.05.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Sayeeda Hana: 27.05.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.