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PPP6C

Synonyms
PP6, PP6C
External resources
Summary
This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X.

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
2
Likely pathogenic
138
VUS
3,125
Likely benign
48
Benign
0

Patient phenotypes

Proportions of phenotypes among 140 patients carring pathogenic or likely pathogenic variants on PPP6C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the musculoskeletal system
27.9%
Abnormality of the cardiovascular system
25%
Abnormality of head or neck
22.1%
Abnormality of the ear
20%
Abnormality of the eye
10.7%
Abnormality of the digestive system
10%
Abnormality of the integument
9.3%
Growth abnormality
9.3%
Abnormality of limbs
7.1%
Abnormality of the genitourinary system
6.4%
Abnormality of the immune system
5%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of the respiratory system
4.3%
Abnormality of the endocrine system
2.9%
Abnormality of prenatal development or birth
2.1%
Neoplasm
2.1%
Constitutional symptom
1.4%
Abnormality of the breast
0.7%
Abnormality of the voice
0.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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