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TRAPPC6B

Synonyms
NEDMEBA, TPC6
External resources
Summary
TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005

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
4
Likely pathogenic
0
VUS
2,290
Likely benign
9
Benign
323

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on TRAPPC6B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the integument
75%
Abnormality of the nervous system
75%
Abnormality of head or neck
50%
Abnormality of limbs
50%
Abnormality of the ear
50%
Abnormality of the eye
50%
Abnormality of the musculoskeletal system
50%
Abnormality of prenatal development or birth
25%
Abnormality of the genitourinary system
25%
Constitutional symptom
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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