NM_014362.4:c.196C>T

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  2. NM_014362.4:c.196C>T

HGVS Expressions

  • NG_017062.1:g.28210C>T
  • NM_014362.4:c.196C>T
  • NP_055177.2:p.Arg66Trp
  • NC_000002.12:g.190296836G>A

Associated Genes

3-Hydroxyisobutyryl-CoA Hydrolase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

757976755

Clinvar

190268

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250620.1.1LebanonPathogenic3-Hydroxyisobutyryl-Coa Hydrolase DeficiencyStiles et al. 2015
250620.1.2LebanonPathogenic3-Hydroxyisobutyryl-Coa Hydrolase DeficiencyStiles et al. 2015 Sibling of 250620.1.1
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Contributors

  • Pratibha Nair: 13.01.2021

Edit History

  • Pratibha Nair: 13.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.