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DEGS2

Synonyms
C14orf66, DES2, FADS8
External resources
Summary
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.

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
3,699
Likely benign
564
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DEGS2 gene.

Phenotype class
Patients in 3billion (%)

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