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KIF16B

Synonyms
C20orf23, KISC20ORF, SNX23
External resources
Summary
The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three 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
51
Likely pathogenic
0
VUS
7,495
Likely benign
7,068
Benign
137

Patient phenotypes

Proportions of phenotypes among 50 patients carring pathogenic or likely pathogenic variants on KIF16B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36%
Abnormality of the musculoskeletal system
30%
Abnormality of head or neck
28%
Abnormality of the eye
16%
Abnormality of limbs
12%
Abnormality of the cardiovascular system
12%
Abnormality of the ear
12%
Abnormality of the immune system
10%
Abnormality of the integument
10%
Growth abnormality
10%
Abnormality of the digestive system
6%
Abnormality of the genitourinary system
6%
Abnormality of blood and blood-forming tissues
4%
Abnormality of prenatal development or birth
2%
Abnormality of the respiratory system
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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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