TRAPPC6B Chromosome 14
Trafficking protein particle complex subunit 6B
Upload your DNA to see your personal genotypes for variants in TRAPPC6B.
What This Gene Does
TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Trafficking protein particle complex subunits
Locus Type
gene with protein product
Location
14q21.1
Ensembl
ENSG00000182400
Associated Conditions (7)
TRAPPC6B-related disorder
Neurodevelopmental disorder with microcephaly
epilepsy
and brain atrophy
Colorectal cancer
TRAPPC6B-related neurodevelopmental disorder
Inborn genetic diseases
Key Variants
RS2053152483
Likely pathogenic
TRAPPC6B-related disorder, TRAPPC6B-related disorder
Health Risk
RS758863393
Likely pathogenic
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Health Risk
RS1347223331
Pathogenic
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Health Risk
RS377626365
Pathogenic
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Health Risk
RS750417849
Pathogenic
Health Risk
RS761878844
Pathogenic
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Health Risk
RS1171802070
Pathogenic/Likely pathogenic
TRAPPC6B-related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, epilepsy
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2053152483 | Health Risk | Likely pathogenic | TRAPPC6B-related disorder, TRAPPC6B-related disorder |
| RS758863393 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy |
| RS1347223331 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy |
| RS377626365 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy |
| RS750417849 | Health Risk | Pathogenic | — |
| RS761878844 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy |
| RS1171802070 | Health Risk | Pathogenic/Likely pathogenic | TRAPPC6B-related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, epilepsy |