NM_002778.4(PSAP):c.1278C>T (p.Asn426=) AND Sphingolipid activator protein 1 deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000932186.14
Allele description [Variation Report for NM_002778.4(PSAP):c.1278C>T (p.Asn426=)]
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024