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SEC23A

Synonyms
CLSD, hSec23A
External resources
Summary
The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking.

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
18
Likely pathogenic
0
VUS
9,685
Likely benign
7,948
Benign
1

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on SEC23A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
44.4%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
27.8%
Abnormality of the ear
27.8%
Abnormality of the eye
16.7%
Growth abnormality
16.7%
Abnormality of the cardiovascular system
11.1%
Abnormality of the immune system
11.1%
Abnormality of the respiratory system
11.1%
Abnormality of limbs
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of the genitourinary system
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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