NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) AND Niemann-Pick disease, type A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003462815.1
Allele description [Variation Report for NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)]
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024