NM_001609.3:c.443C>T

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  2. NM_001609.3:c.443C>T

HGVS Expressions

  • NG_008003.1:g.36693C>T
  • NM_001609.3:c.443C>T
  • NP_001600.1:p.Thr148Ile
  • NC_000010.11:g.123040605C>T

Associated Genes

Acyl-CoA Dehydrogenase, Short/Branched Chain
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

58639322

Clinvar

9202

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610006.3.1Lebanon1Pathogenic2-Methylbutyryl-CoA Dehydrogenase DeficiencySass et al, 2008 Increased C5 acylcarnitine in neonatal s...
610006.3.2Lebanon1Pathogenic2-Methylbutyryl-CoA Dehydrogenase DeficiencySass et al, 2008 Brother of 610006.3.1; Increased C5 acyl...
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Contributors

  • Pratibha Nair: 08.10.2018

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 23.01.2019
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© CAGS 2024. All rights reserved.