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CYLC1

Synonyms
CYCL1
External resources
Summary
This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants.

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
8
Likely pathogenic
0
VUS
2,077
Likely benign
2,547
Benign
0

Patient phenotypes

Proportions of phenotypes among 2 patients carrying pathogenic or likely pathogenic variants on CYLC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood-forming tissues
50%
Abnormality of head or neck
50%
Abnormality of the genitourinary system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
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 digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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