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CLEC11A

Synonyms
CLECSF3, LSLCL, P47, SCGF
External resources
Summary
This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined.

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
33
Likely pathogenic
60
VUS
926
Likely benign
82
Benign
0

Patient phenotypes

Proportions of phenotypes among 91 patients carring pathogenic or likely pathogenic variants on CLEC11A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
45.1%
Abnormality of the nervous system
40.7%
Abnormality of the musculoskeletal system
35.2%
Abnormality of head or neck
23.1%
Growth abnormality
16.5%
Abnormality of limbs
15.4%
Abnormality of the digestive system
13.2%
Abnormality of the cardiovascular system
9.9%
Abnormality of the immune system
8.8%
Abnormality of the integument
8.8%
Abnormality of the ear
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of blood and blood-forming tissues
6.6%
Neoplasm
6.6%
Abnormality of the respiratory system
4.4%
Abnormality of prenatal development or birth
2.2%
Abnormality of the breast
2.2%
Constitutional symptom
1.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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