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SEC16A

Synonyms
KIAA0310, SEC16L, p250
External resources
Summary
This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms.

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
18
Likely pathogenic
0
VUS
7,847
Likely benign
1,200
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on SEC16A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
66.7%
Constitutional symptom
33.3%
Abnormality of the nervous system
26.7%
Abnormality of head or neck
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the digestive system
13.3%
Growth abnormality
13.3%
Abnormality of the eye
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the integument
6.7%
Abnormality of the respiratory system
6.7%
Neoplasm
6.7%
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 ear
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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