NM_000159.4:c.914C>T

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  2. NM_000159.4:c.914C>T

HGVS Expressions

  • NG_009292.1:g.10812C>T
  • NM_000159.4:c.914C>T
  • NP_000150.1:p.Ser305Leu

Associated Genes

Glutaryl-CoA Dehydrogenase
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Genomic Location

chr19:12896971

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1260580183

Clinvar

581598

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231670.9.1Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996
231670.9.2Palestine1Anikster et al. 1996 Father of 231670.9.1
231670.9.3Palestine1Anikster et al. 1996 Mother of 231670.9.1
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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.