NM_000466.3(PEX1):c.1777G>T (p.Gly593Ter) AND Heimler syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003476777.1
Allele description [Variation Report for NM_000466.3(PEX1):c.1777G>T (p.Gly593Ter)]
NM_000466.3(PEX1):c.1777G>T (p.Gly593Ter)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023