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PHACTR3

Synonyms
C20orf101, H17739, PPP1R123, SCAPIN1, SCAPININ
External resources
Summary
This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants.

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
11
Likely pathogenic
0
VUS
3,709
Likely benign
905
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on PHACTR3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
62.5%
Abnormality of head or neck
50%
Abnormality of limbs
50%
Abnormality of the eye
50%
Abnormality of the nervous system
50%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
25%
Abnormality of the genitourinary system
25%
Growth abnormality
25%
Abnormality of the breast
12.5%
Abnormality of the ear
12.5%
Abnormality of the integument
12.5%
Neoplasm
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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