NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp) AND Niemann-Pick disease, type A
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001004577.1
Allele description [Variation Report for NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp)]
NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2023