NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) AND Niemann-Pick disease, type A
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001808669.4
Allele description [Variation Report for NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])]
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
Condition(s)
-
NPL [Propithecus coquereli]
NPL [Propithecus coquereli]Gene ID:105806765Gene
-
COLGALT2 [Propithecus coquereli]
COLGALT2 [Propithecus coquereli]Gene ID:105806790Gene
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See more...Assertion and evidence details
Last Updated: May 19, 2024