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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,122
Likely benign
46
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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