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PCTP

Synonyms
PC-TP, STARD2
External resources

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
86
Likely pathogenic
5
VUS
4,185
Likely benign
75
Benign
0

Patient phenotypes

Proportions of phenotypes among 88 patients carring pathogenic or likely pathogenic variants on PCTP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.9%
Abnormality of head or neck
29.5%
Abnormality of the musculoskeletal system
28.4%
Abnormality of the cardiovascular system
18.2%
Abnormality of the eye
14.8%
Abnormality of the ear
11.4%
Abnormality of the genitourinary system
11.4%
Growth abnormality
11.4%
Abnormality of the digestive system
8%
Abnormality of the immune system
8%
Abnormality of limbs
6.8%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of the integument
3.4%
Abnormality of the endocrine system
2.3%
Constitutional symptom
2.3%
Abnormal cellular phenotype
1.1%
Abnormality of prenatal development or birth
1.1%
Abnormality of the respiratory system
1.1%
Neoplasm
1.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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