NM_000282.4:c.2158_2159insT

  1. Home
  2. NM_000282.4:c.2158_2159insT

HGVS Expressions

  • NG_008768.1:g.446055_446056insT
  • NM_000282.4:c.2158_2159insT
  • NP_000273.2:p.Glu720ValfsTer14
  • NC_000013.11:g.100530137_100530138insT

Associated Genes

Propionyl-CoA Carboxylase, Alpha Subunit
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606054.6.1United Arab Emirates2Likely PathogenicPropionic AcidemiaSakrani et al. 2021 Proband. She has a healthy sibling
606054.6.2United Arab Emirates1Sakrani et al. 2021 Father of the proband
606054.6.3United Arab Emirates1Sakrani et al. 2021 Mother of the proband
Download Table

Contributors

  • Sami Bizzari: 07.03.2022

Edit History

  • Sami Bizzari: 07.03.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.