NM_000159.4:c.1168G>C

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  2. NM_000159.4:c.1168G>C

HGVS Expressions

  • NG_009292.1:g.11629G>C
  • NM_000159.4:c.1168G>C
  • NP_000150.1:p.Gly390Arg

Associated Genes

Glutaryl-CoA Dehydrogenase
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Genomic Location

chr19:12897788

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

372983141

Clinvar

193799

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231670.10.1Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996; Mandel et al, 1991
231670.10.2Palestine1PathogenicAnikster et al. 1996; Mandel et al, 1991 Mother of 231670.10.1
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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.