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CLIP1

Synonyms
CLIP, CLIP-170, CLIP170, CYLN1, RSN
External resources
Summary
The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene.

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
60
Likely pathogenic
0
VUS
9,494
Likely benign
317
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carring pathogenic or likely pathogenic variants on CLIP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
39.1%
Abnormality of the nervous system
34.8%
Abnormality of head or neck
21.7%
Abnormality of the integument
17.4%
Neoplasm
13%
Abnormality of blood and blood-forming tissues
8.7%
Abnormality of the ear
8.7%
Abnormality of the immune system
8.7%
Abnormality of the musculoskeletal system
8.7%
Abnormality of the digestive system
4.3%
Abnormality of the endocrine system
4.3%
Abnormality of the respiratory system
4.3%
Growth abnormality
4.3%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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