NM_000318.3(PEX2):c.864C>T (p.His288=) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002857610.2
Allele description [Variation Report for NM_000318.3(PEX2):c.864C>T (p.His288=)]
NM_000318.3(PEX2):c.864C>T (p.His288=)
Condition(s)
-
XRCC6P1 X-ray repair cross complementing 6 pseudogene 1 [Homo sapiens]
XRCC6P1 X-ray repair cross complementing 6 pseudogene 1 [Homo sapiens]Gene ID:387703Gene
-
XRCC6P1 AND (alive[prop]) (1)
Gene
-
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Microcebus murinus]
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Microcebus murinus]Gene ID:105869419Gene
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Last Updated: Feb 20, 2024