NM_001609.3:c.303+3A>G

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  2. NM_001609.3:c.303+3A>G

HGVS Expressions

  • NG_008003.1:g.33938A>G
  • NM_001609.3:c.303+3A>G

Associated Genes

Acyl-CoA Dehydrogenase, Short/Branched Chain
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Genomic Location

Chr10:123037850

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1345480688

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610006.1.1Eritrea1Pathogenic2-Methylbutyryl-CoA Dehydrogenase DeficiencyGibson et al. 2000; Madsen et al. 2006 Compound heterozygous
610006.1.2Eritrea1Pathogenic2-Methylbutyryl-CoA Dehydrogenase DeficiencyGibson et al. 2000; Madsen et al. 2006 Sister of 610006.1.1; Prenatally diagnos...
610006.2.1Somalia2Pathogenic2-Methylbutyryl-CoA Dehydrogenase DeficiencyMadsen et al. 2006
610006.2.2Somalia1Pathogenic2-Methylbutyryl-CoA Dehydrogenase DeficiencyMadsen et al. 2006 Mother of 610006.2.1
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Contributors

  • Pratibha Nair: 08.10.2018

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 23.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.