NM_000159.4:c.877G>A

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  2. NM_000159.4:c.877G>A

HGVS Expressions

  • NG_009292.1:g.10775G>A
  • NM_000159.4:c.877G>A
  • NP_000150.1:p.Ala293Thr

Associated Genes

Glutaryl-CoA Dehydrogenase
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Genomic Location

chr19:12896934

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121434371

Clinvar

2083

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231670.7.1Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996
231670.7.2Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996 Sister of 231670.7.1
231670.7.3Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996 Sister of 231670.7.1
231670.7.4Palestine1Anikster et al. 1996 Father of 231670.7.1
231670.7.5Palestine1Anikster et al. 1996 Mother of 231670.7.1
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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.