NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs) AND Peroxisome biogenesis disorder 4A (Zellweger)
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002309468.2
Allele description [Variation Report for NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)]
NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)
Condition(s)
Assertion and evidence details
Last Updated: Jan 7, 2023