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MBOAT1

Synonyms
LPEAT1, LPLAT, LPLAT 1, LPSAT, OACT1, dJ434O11.1
External resources
Summary
This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described 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
4,402
Likely benign
883
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on MBOAT1 gene.

Phenotype class
Patients in 3billion (%)

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