NM_000532.5:c.1142G>A

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  2. NM_000532.5:c.1142G>A

HGVS Expressions

  • NG_008939.1:g.81530G>A
  • NM_000532.5:c.1142G>A
  • NP_000523.2:p.Cys381Tyr
  • NC_000003.12:g.136326854G>A

Associated Genes

Propionyl-Coa Carboxylase, Beta Subunit
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1024773388

Clinvar

557515

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606054.4United Arab Emirates2PathogenicPropionic AcidemiaAl-Shamsi et al. 2014
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Contributors

  • Pratibha Nair: 10.08.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 10.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.