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SEC16B

Synonyms
LZTR2, PGPR-p117, RGPR, RGPR-p117, SEC16S
External resources
Summary
SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007

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
23
Likely pathogenic
0
VUS
6,778
Likely benign
1,069
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carring pathogenic or likely pathogenic variants on SEC16B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
30.4%
Abnormality of the nervous system
30.4%
Abnormality of head or neck
17.4%
Abnormality of limbs
17.4%
Abnormality of the musculoskeletal system
17.4%
Abnormality of blood and blood-forming tissues
13%
Abnormality of the ear
13%
Abnormality of the integument
8.7%
Growth abnormality
8.7%
Abnormality of prenatal development or birth
4.3%
Abnormality of the cardiovascular system
4.3%
Abnormality of the digestive system
4.3%
Abnormality of the genitourinary system
4.3%
Abnormality of the immune system
4.3%
Abnormality of the respiratory system
4.3%
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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