NM_002617.4(PEX10):c.488C>T (p.Ala163Val) AND Peroxisome biogenesis disorder, complementation group 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001856350.4
Allele description [Variation Report for NM_002617.4(PEX10):c.488C>T (p.Ala163Val)]
NM_002617.4(PEX10):c.488C>T (p.Ala163Val)
Condition(s)
- Name:
- Peroxisome biogenesis disorder, complementation group 7 (CG7)
- Synonyms:
- Peroxisome biogenesis disorder, complementation group B
- Identifiers:
- MedGen: C1864399
Assertion and evidence details
Last Updated: Apr 9, 2023