NM_002778.4(PSAP):c.722_723delinsAA (p.Cys241Ter) AND Sphingolipid activator protein 1 deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003013783.3
Allele description [Variation Report for NM_002778.4(PSAP):c.722_723delinsAA (p.Cys241Ter)]
NM_002778.4(PSAP):c.722_723delinsAA (p.Cys241Ter)
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025