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AGPAT4

Synonyms
1-AGPAT4, LPAAT-delta, dJ473J16.2
External resources
Summary
This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis.

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
9
Likely pathogenic
0
VUS
1,994
Likely benign
35
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on AGPAT4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
44.4%
Abnormality of the nervous system
44.4%
Abnormality of head or neck
22.2%
Abnormality of the cardiovascular system
22.2%
Abnormality of the digestive system
22.2%
Abnormality of the immune system
22.2%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of the eye
11.1%
Abnormality of the respiratory system
11.1%
Constitutional symptom
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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