NM_004813.4:c.460+5G>A

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HGVS Expressions

  • NG_008460.1:g.7661G>A
  • NM_004813.4:c.460+5G>A
  • NP_004804.2:p.?
  • NC_000011.10:g.45915463C>T

Associated Genes

Peroxisome Biogenesis Factor 16
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1339506

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614876.2.1United Arab Emirates2NALikely PathogenicPeroxisome Biogenesis Disorder 8A (Zellweger)Salpietro et al. 2015 'Patient 1' in the publication
614876.2.2United Arab Emirates1NASalpietro et al. 2015 Father of 614876.2.1
614876.2.3United Arab Emirates1NASalpietro et al. 2015 Mother of 614876.2.1
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Contributors

  • Asha Deepthi: 15.08.2022

Edit History

  • Pratibha Nair: 29.11.2022
  • Asha Deepthi: 15.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.