NM_001244710.2:c.686-1G>A

  1. Home
  2. NM_001244710.2:c.686-1G>A

HGVS Expressions

  • NG_029542.1:g.37938G>A
  • NM_001244710.2:c.686-1G>A
  • NC_000002.12:g.69354313C>T

Associated Genes

Glutamine:Fructose-6-Phosphate Amidotransferase 1
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2104647624

Clinvar

1252034

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610542.2.1Saudi Arabia1Likely PathogenicMonies et al. 2019 Mother of 610542.2.G
610542.2.2Saudi Arabia1Likely PathogenicMonies et al. 2019 Father of 610542.2.G
610542.2.GSaudi Arabia6Likely PathogenicMyasthenic Syndrome, Congenital, 12Monies et al. 2019 Three siblings, all deceased. DNA was on...
Download Table

Contributors

  • Pratibha Nair: 16.11.2023

Edit History

  • Pratibha Nair: 16.11.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.