NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro) AND Niemann-Pick disease, type A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 4, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000666400.1
Allele description [Variation Report for NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro)]
NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2023