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CEP128

Synonyms
C14orf145, C14orf61, LEDP/132
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
51
Likely pathogenic
311
VUS
7,274
Likely benign
1,202
Benign
0

Patient phenotypes

Proportions of phenotypes among 360 patients carring pathogenic or likely pathogenic variants on CEP128 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
39.4%
Abnormality of the nervous system
32.5%
Abnormality of the musculoskeletal system
25.6%
Abnormality of head or neck
17.5%
Abnormality of the cardiovascular system
14.4%
Abnormality of the ear
9.4%
Growth abnormality
9.2%
Abnormality of limbs
6.9%
Abnormality of the integument
6.4%
Abnormality of the genitourinary system
6.1%
Abnormality of the digestive system
5.6%
Abnormality of the respiratory system
4.7%
Abnormality of blood and blood-forming tissues
3.9%
Abnormality of the endocrine system
3.1%
Abnormality of the immune system
3.1%
Abnormality of prenatal development or birth
1.7%
Constitutional symptom
1.4%
Abnormality of the breast
0.8%
Neoplasm
0.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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