NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002479299.1
Allele description [Variation Report for NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)]
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
Condition(s)
- Name:
- Peroxisome biogenesis disorder 4A (Zellweger) (PBD4A)
- Synonyms:
- Zellweger syndrome spectrum (PEX6-related)
- Identifiers:
- MONDO: MONDO:0013930; MedGen: C3553936; Orphanet: 912; OMIM: 614862
Assertion and evidence details
Last Updated: Sep 29, 2024