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CABP4

Synonyms
CRSD, CSNB2B
External resources
Summary
This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
29
Likely pathogenic
5
VUS
7,366
Likely benign
2,444
Benign
0

Patient phenotypes

Proportions of phenotypes among 34 patients carrying pathogenic or likely pathogenic variants on CABP4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
44.1%
Abnormality of the musculoskeletal system
44.1%
Abnormality of the nervous system
41.2%
Abnormality of head or neck
29.4%
Abnormality of limbs
23.5%
Growth abnormality
20.6%
Abnormality of the digestive system
17.6%
Abnormality of the cardiovascular system
14.7%
Abnormality of the ear
14.7%
Abnormality of prenatal development or birth
11.8%
Abnormality of the genitourinary system
8.8%
Abnormality of the respiratory system
8.8%
Abnormality of the immune system
5.9%
Abnormality of the integument
5.9%
Constitutional symptom
5.9%
Abnormality of the endocrine system
2.9%
Abnormality of the thoracic cavity
2.9%
Neoplasm
2.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the voice
0%

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