NM_001609.3:c.763C>T

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HGVS Expressions

  • NG_008003.1:g.39215C>T
  • NM_001609.3:c.763C>T
  • NP_001600.1:p.Leu255Phe

Associated Genes

Acyl-CoA Dehydrogenase, Short/Branched Chain
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Genomic Location

Chr10:123043127

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

137852649

Clinvar

9200

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...
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Contributors

  • Pratibha Nair: 08.10.2018

Edit History

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