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AGPAT1

Synonyms
1-AGPAT1, G15, LPAAT-alpha, LPAATA
External resources
Summary
This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein.

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
14,988
Likely benign
194
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on AGPAT1 gene.

Phenotype class
Patients in 3billion (%)

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