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CLEC16A

Synonyms
Gop-1, KIAA0350
External resources
Summary
This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple 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
5
Likely pathogenic
0
VUS
5,739
Likely benign
401
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carring pathogenic or likely pathogenic variants on CLEC16A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
60%
Abnormality of the nervous system
60%
Abnormality of head or neck
40%
Abnormality of the ear
20%
Abnormality of the eye
20%
Abnormality of the genitourinary system
20%
Abnormality of the immune system
20%
Abnormality of the integument
20%
Abnormality of the respiratory system
20%
Growth abnormality
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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