rs1490294231

This variant is located in the DEGS2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About DEGS2

This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]

View all DEGS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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