NM_002778.4(PSAP):c.577-1G>T AND Sphingolipid activator protein 1 deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 1996
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000014295.26
Allele description [Variation Report for NM_002778.4(PSAP):c.577-1G>T]
NM_002778.4(PSAP):c.577-1G>T
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025