TRAPPC11 Chromosome 4
Trafficking protein particle complex subunit 11
Upload your DNA to see your personal genotypes for variants in TRAPPC11.
What This Gene Does
The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
Trafficking protein particle complex subunits
Locus Type
gene with protein product
Location
4q35.1
Ensembl
ENSG00000168538
Associated Conditions (10)
Autosomal recessive limb-girdle muscular dystrophy type R18
Inborn genetic diseases
Gastric cancer
TRAPPC11-related disorder
Autosomal recessive limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy
Colon adenocarcinoma
Muscular dystrophy
limb-girdle
autosomal recessive 23
Key Variants
RS111381550
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS1170374164
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS1353717821
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS139034513
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS141880154
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS146441514
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS148833310
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Gastric cancer, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS149626892
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS150593522
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS151021715
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS1734697591
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
RS200618360
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1736442342 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS200561007 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2111067026 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2111068100 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2111348673 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2111363477 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2476829947 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2476862111 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2476948907 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2477068133 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2477083128 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS374498633 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS750976634 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS756883456 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS780139133 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS886041052 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS886041053 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1180079162 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1234694300 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1400419850 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS140403642 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Limb-girdle muscular dystrophy, Colon adenocarcinoma |
| RS1579207748 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1735877322 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS397509417 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS397509418 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Muscular dystrophy, limb-girdle |
| RS569565392 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS759415592 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS769785004 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS770361045 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS771717941 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type R18 |