NM_001099922.3:c.320A>G

  1. Home
  2. NM_001099922.3:c.320A>G

HGVS Expressions

  • NG_016238.1:g.8923A>G
  • NM_001099922.3:c.320A>G
  • NP_001093392.1:p.Asn107Ser
  • NC_000023.11:g.111685040A>G

Associated Genes

ALG13 UDP-N-Acetylglucosaminyltransferase Subunit
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

398122394

Clinvar

66086

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300884.2United Arab Emirates1Likely PathogenicDevelopmental and Epileptic Encephalopathy 36Bastaki et al. 2018; Hamici et al. 2017
Download Table

Contributors

  • Sayeeda Hana: 31.03.2021

Edit History

  • Sayeeda Hana: 07.12.2022
  • Sayeeda Hana: 18.05.2021
  • Sayeeda Hana: 31.03.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.