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SGPP1

Synonyms
SPP-1, SPPase1
External resources
Summary
Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,347
Likely benign
153
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SGPP1 gene.

Phenotype class
Patients in 3billion (%)

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