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SEC31B

Synonyms
SEC31B-1, SEC31L2
External resources
Summary
This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site.

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
130
Likely pathogenic
0
VUS
3,998
Likely benign
352
Benign
0

Patient phenotypes

Proportions of phenotypes among 130 patients carring pathogenic or likely pathogenic variants on SEC31B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.5%
Abnormality of the musculoskeletal system
26.9%
Abnormality of the eye
20%
Abnormality of head or neck
19.2%
Abnormality of the cardiovascular system
16.2%
Growth abnormality
10.8%
Abnormality of the ear
10%
Abnormality of the genitourinary system
10%
Abnormality of the integument
9.2%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the digestive system
6.2%
Abnormality of limbs
5.4%
Abnormality of the endocrine system
5.4%
Abnormality of the immune system
5.4%
Abnormality of prenatal development or birth
4.6%
Abnormality of the respiratory system
1.5%
Constitutional symptom
1.5%
Neoplasm
1.5%
Abnormality of the breast
0.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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