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CLUAP1

Synonyms
CFAP22, FAP22, IFT38
External resources
Summary
The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms.

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
3
Likely pathogenic
0
VUS
6,428
Likely benign
8,503
Benign
596

Patient phenotypes

Proportions of phenotypes among 3 patients carring pathogenic or likely pathogenic variants on CLUAP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of prenatal development or birth
33.3%
Abnormality of the ear
33.3%
Abnormality of the immune system
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the nervous system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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