NM_000159.4:c.301G>A

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  2. NM_000159.4:c.301G>A

HGVS Expressions

  • NG_009292.1:g.5986G>A
  • NM_000159.4:c.301G>A
  • NP_000150.1:p.Gly101Arg

Associated Genes

Glutaryl-CoA Dehydrogenase
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Genomic Location

chr19:12892145

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1273164833

Clinvar

550735

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231670.6.1Iraq2PathogenicGlutaric Acidemia IAnikster et al. 1996 Patient belongs to a family of Iraqi-Jew...
231670.6.2Iraq2PathogenicGlutaric Acidemia IAnikster et al. 1996 Brother of 231670.6.1
231670.6.3Iraq1Anikster et al. 1996 Father of 231670.6.1
231670.6.4Iraq1Anikster et al. 1996 Mother of 231670.6.1
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Contributors

  • Sayeeda Hana: 18.08.2020

Edit History

  • Sayeeda Hana: 19.08.2020
  • Sayeeda Hana: 18.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.