NM_002857.4:c.320del

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HGVS Expressions

  • NG_008637.1:g.7182del
  • NM_002857.4:c.320del
  • NP_002848.1:p.Lys107SerfsTer13
  • NC_000001.11:g.160282973del

Associated Genes

Peroxisome Biogenesis Factor 19
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1571138735

Clinvar

30062

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614886.1.1Saudi Arabia2PathogenicPeroxisome Biogenesis Disorder 12A (Zellweger)Mohamed et al. 2010 Patient died at 16 months of age due to ...
614886.1.2Saudi Arabia1Mohamed et al. 2010 Father of 614886.1.1
614886.1.3Saudi Arabia1Mohamed et al. 2010 Mother of 614886.1.1
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Contributors

  • Sayeeda Hana: 31.03.2023

Edit History

  • Sayeeda Hana: 31.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.