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 |
|---|---|---|---|
| RS111381550 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1170374164 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1353717821 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS139034513 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS141880154 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS146441514 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS148833310 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Gastric cancer, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS149626892 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS150593522 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS151021715 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1734697591 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS200618360 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS201868142 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS373944670 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS377549138 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS533000838 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS753631615 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS759325090 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS764158202 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS766143826 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS772814181 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS778742385 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type R18, TRAPPC11-related disorder, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS896056101 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases |
| RS1186858080 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1377315723 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1480951752 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy |
| RS1483190866 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1554007706 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1554008865 | Health Risk | Likely pathogenic | — |
| RS1554008866 | Health Risk | Likely pathogenic | — |
| RS1561063218 | Health Risk | Likely pathogenic | TRAPPC11-related disorder, TRAPPC11-related disorder |
| RS1734714805 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1735767573 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2111065159 | Health Risk | Likely pathogenic | — |
| RS2111068286 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2111348918 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2476847103 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2476948265 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS2477083166 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS758227044 | Health Risk | Likely pathogenic | — |
| RS763507812 | Health Risk | Likely pathogenic | — |
| RS1171897657 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1216637259 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1252513246 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1414226750 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS150331292 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1554009901 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1735328958 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1735351912 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1735567359 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |