NM_000159.4:c.427G>A

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HGVS Expressions

  • NG_009292.1:g.7416G>A
  • NM_000159.4:c.427G>A
  • NP_000150.1:p.Val143Ile
  • NC_000019.10:g.12893575G>A

Associated Genes

Glutaryl-CoA Dehydrogenase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1555749918

Clinvar

554075

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231670.2United Arab Emirates2Likely PathogenicGlutaric Acidemia IAl-Shamsi et al. 2014
231670.G.1United Arab Emirates2Likely PathogenicGlutaric Acidemia IAl-Jasmi at al. 2016; Saleh et al. 2021 Mutations identified in two Emirati pati...
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Contributors

  • Sayeeda Hana: 18.08.2020

Edit History

  • Asha Deepthi: 23.06.2021
  • Sayeeda Hana: 18.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.