NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro) AND Niemann-Pick disease, type A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001527423.2
Allele description [Variation Report for NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro)]
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro)
Condition(s)
-
eggc.vip9Vh (0)
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Last Updated: Dec 24, 2023