NM_000318.3(PEX2):c.327T>C (p.Cys109=) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001495097.7
Allele description [Variation Report for NM_000318.3(PEX2):c.327T>C (p.Cys109=)]
NM_000318.3(PEX2):c.327T>C (p.Cys109=)
Condition(s)
-
Homo sapiens
Homo sapiensCelera Genomics WGS human genome sequencing projectBioProject
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BioProject Links for Protein (Select 119593035) (1)
BioProject
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Taxonomy Links for Protein (Select 119593034) (1)
Taxonomy
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GEO Profile Links for Gene (Select 170960) (2200)
GEO Profiles
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Full text in PMC (nucleotide) for Gene (Select 10133) (98)
PMC
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Last Updated: Feb 28, 2024