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DGAT2

Synonyms
ARAT, GS1999FULL, HMFN1045
External resources
Summary
This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene.

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
463
Likely benign
2,689
Benign
12

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DGAT2 gene.

Phenotype class
Patients in 3billion (%)

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