NM_002778.4(PSAP):c.555_556dup (p.Arg186fs) AND Sphingolipid activator protein 1 deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002833405.3
Allele description [Variation Report for NM_002778.4(PSAP):c.555_556dup (p.Arg186fs)]
NM_002778.4(PSAP):c.555_556dup (p.Arg186fs)
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025