NM_002778.4(PSAP):c.128G>A (p.Gly43Glu) AND Sphingolipid activator protein 1 deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001088093.9
Allele description [Variation Report for NM_002778.4(PSAP):c.128G>A (p.Gly43Glu)]
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024