NM_000318.3(PEX2):c.190T>A (p.Leu64Met) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002605144.3
Allele description [Variation Report for NM_000318.3(PEX2):c.190T>A (p.Leu64Met)]
NM_000318.3(PEX2):c.190T>A (p.Leu64Met)
Condition(s)
-
methionine aminopeptidase 1D, mitochondrial isoform 1 precursor [Homo sapiens]
methionine aminopeptidase 1D, mitochondrial isoform 1 precursor [Homo sapiens]gi|40385867|ref|NP_954697.1|Protein
-
Chain O, Histone H2A.x
Chain O, Histone H2A.xgi|1423517385|pdb|3SZM|OProtein
-
Chain C, Microcephalin
Chain C, Microcephalingi|358439823|pdb|3SZM|CProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024