NM_000466.3(PEX1):c.1927del (p.Thr643fs) AND Peroxisome biogenesis disorder 1A (Zellweger)
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000698530.4
Allele description [Variation Report for NM_000466.3(PEX1):c.1927del (p.Thr643fs)]
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
Condition(s)
-
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Last Updated: Sep 29, 2024