NM_000159.3:c.505+1G>A

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HGVS Expressions

  • NG_009292.1:g.7495G>A
  • NM_000159.3:c.505+1G>A
  • NC_000019.10:g.12893654G>A

Associated Genes

Glutaryl-CoA Dehydrogenase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231670.11Palestine2Likely PathogenicGlutaric Acidemia IBen-Rebeh et al. 2012
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Contributors

  • Sayeeda Hana: 24.05.2021

Edit History

  • Pratibha Nair: 26.10.2022
  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 24.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.