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PRIMA1

Synonyms
PRIMA
External resources
Summary
The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes.

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
19
Likely pathogenic
0
VUS
743
Likely benign
216
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on PRIMA1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
35.7%
Abnormality of the nervous system
28.6%
Abnormality of the cardiovascular system
21.4%
Abnormality of the ear
21.4%
Abnormality of the musculoskeletal system
21.4%
Abnormality of head or neck
14.3%
Abnormality of the endocrine system
14.3%
Growth abnormality
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the genitourinary system
7.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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