Home > Gene Browser > CCZ1B

CCZ1B

Synonyms
C7orf28A, C7orf28B, CCZ1, H_NH0577018.2
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
15
Likely pathogenic
0
VUS
3,852
Likely benign
434
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on CCZ1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of head or neck
46.7%
Abnormality of the eye
40%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the integument
26.7%
Abnormality of the cardiovascular system
20%
Abnormality of the genitourinary system
20%
Growth abnormality
20%
Abnormality of limbs
13.3%
Abnormality of the ear
13.3%
Abnormality of the immune system
13.3%
Abnormality of prenatal development or birth
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the respiratory system
6.7%
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 endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes