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PRRC2C

Synonyms
BAT2-iso, BAT2D1, BAT2L2, XTP2
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
309
Likely pathogenic
0
VUS
10,695
Likely benign
622
Benign
0

Patient Phenotypes

Proportions of phenotypes among 153 patients carrying pathogenic or likely pathogenic variants on PRRC2C gene are displayed below. The following symptoms were found in patients with a variant in PRRC2C. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.8%
Abnormality of the eye
43.1%
Abnormality of the musculoskeletal system
29.4%
Abnormality of head or neck
25.5%
Growth abnormality
16.3%
Abnormality of the ear
15.7%
Abnormality of the integument
15.7%
Abnormality of the cardiovascular system
12.4%
Abnormality of limbs
10.5%
Abnormality of the genitourinary system
9.2%
Abnormality of the endocrine system
5.9%
Abnormality of the immune system
5.9%
Abnormality of metabolism homeostasis
5.2%
Abnormality of the digestive system
4.6%
Abnormality of the respiratory system
3.9%
Abnormality of blood and blood forming tissues
3.3%
Abnormality of prenatal development or birth
2.6%
Abnormality of the breast
1.3%
Abnormal cellular phenotype
0.7%
Neoplasm
0.7%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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