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PRRC2B

Synonyms
BAT2L, BAT2L1, KIAA0515, LQFBS-1
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
34
Likely pathogenic
0
VUS
12,313
Likely benign
217
Benign
0

Patient Phenotypes

Proportions of phenotypes among 33 patients carrying pathogenic or likely pathogenic variants on PRRC2B gene are displayed below. The following symptoms were found in patients with a variant in PRRC2B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
51.5%
Abnormality of the musculoskeletal system
30.3%
Abnormality of the nervous system
30.3%
Abnormality of head or neck
24.2%
Abnormality of the ear
18.2%
Abnormality of the integument
18.2%
Abnormality of metabolism homeostasis
12.1%
Abnormality of the cardiovascular system
12.1%
Abnormality of limbs
9.1%
Growth abnormality
9.1%
Abnormality of prenatal development or birth
3%
Abnormality of the digestive system
3%
Abnormality of the endocrine system
3%
Abnormality of the genitourinary system
3%
Abnormality of the immune system
3%
Abnormality of the voice
3%
Constitutional symptom
3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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