NM_001244710.2:c.1588C>T

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HGVS Expressions

  • NG_029542.1:g.62558C>T
  • NM_001244710.2:c.1588C>T
  • NP_001231639.1:p.Arg530Trp
  • NC_000002.12:g.69329693G>A

Associated Genes

Glutamine:Fructose-6-Phosphate Amidotransferase 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1024585946

Clinvar

1301986

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610542.1Saudi Arabia2Likely PathogenicMyasthenic Syndrome, Congenital, 12Monies et al. 2019
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Contributors

  • Pratibha Nair: 16.11.2023

Edit History

  • Pratibha Nair: 16.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.