NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002494711.1
Allele description [Variation Report for NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)]
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
Condition(s)
- Name:
- Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
- Synonyms:
- Zellweger leukodystrophy; Peroxisome biogenesis disorder 1a
- Identifiers:
- MONDO: MONDO:0008953; MedGen: C4721541; OMIM: 214100
Assertion and evidence details
Last Updated: Sep 29, 2024