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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 [PubMed 16025134]).

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
5
Likely pathogenic
0
VUS
4,581
Likely benign
53
Benign
70

Patient phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on TRAPPC6B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the integument
60%
Abnormality of the nervous system
60%
Abnormality of head or neck
40%
Abnormality of limbs
40%
Abnormality of the ear
40%
Abnormality of the eye
40%
Abnormality of the musculoskeletal system
40%
Abnormality of prenatal development or birth
20%
Abnormality of the cardiovascular system
20%
Abnormality of the genitourinary system
20%
Constitutional symptom
20%
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 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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