TRAPPC9 Chromosome 8
Trafficking protein particle complex subunit 9
Upload your DNA to see your personal genotypes for variants in TRAPPC9.
What This Gene Does
This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Trafficking protein particle complex subunits
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000167632
Associated Conditions (13)
Intellectual disability
autosomal recessive 13
Inborn genetic diseases
TRAPPC9-related disorder
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Autism spectrum disorder
Abnormality of the nervous system
Autosomal recessive non-syndromic intellectual disability
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Malignant tumor of esophagus
Key Variants
RS111768745
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 13, Inborn genetic diseases
Health Risk
RS112997540
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139631202
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 13, Inborn genetic diseases
Health Risk
RS140157207
Conflicting classifications of pathogenicity
Inborn genetic diseases, TRAPPC9-related disorder, Inborn genetic diseases
Health Risk
RS1402095850
Conflicting classifications of pathogenicity
Health Risk
RS141067069
Conflicting classifications of pathogenicity
Inborn genetic diseases, TRAPPC9-related disorder, Inborn genetic diseases
Health Risk
RS145503551
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 13, TRAPPC9-related disorder
Health Risk
RS145960296
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146235874
Conflicting classifications of pathogenicity
Inborn genetic diseases, TRAPPC9-related disorder, Inborn genetic diseases
Health Risk
RS147127279
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Intellectual disability
Health Risk
RS147499593
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 13, Inborn genetic diseases
Health Risk
RS148353187
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (114)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1357591960 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS1465738840 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1588295226 | Health Risk | Likely pathogenic | — |
| RS201836353 | Health Risk | Likely pathogenic | — |
| RS2070773527 | Health Risk | Likely pathogenic | — |
| RS2131117340 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2131321747 | Health Risk | Likely pathogenic | — |
| RS2489805216 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2537254905 | Health Risk | Likely pathogenic | — |
| RS2539376880 | Health Risk | Likely pathogenic | — |
| RS2539378745 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2539627983 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2539628652 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2540231164 | Health Risk | Likely pathogenic | TRAPPC9-related disorder, TRAPPC9-related disorder |
| RS2540546209 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS761106917 | Health Risk | Likely pathogenic | — |
| RS765002341 | Health Risk | Likely pathogenic | — |
| RS779744636 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS1174482090 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS1377398622 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS139179950 | Health Risk | Pathogenic | — |
| RS1489634479 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS1554632235 | Health Risk | Pathogenic | — |
| RS1554689877 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS1587520018 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS1588397346 | Health Risk | Pathogenic | — |
| RS1837435094 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2065096453 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2065638761 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2066292405 | Health Risk | Pathogenic | — |
| RS2071449894 | Health Risk | Pathogenic | — |
| RS2131116634 | Health Risk | Pathogenic | — |
| RS2131321455 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2131709148 | Health Risk | Pathogenic | — |
| RS2131714307 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2131714597 | Health Risk | Pathogenic | Autosomal recessive non-syndromic intellectual disability, Autosomal recessive non-syndromic intellectual disability |
| RS2131922149 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2489800559 | Health Risk | Pathogenic | — |
| RS2538961463 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2539378902 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2539466370 | Health Risk | Pathogenic | — |
| RS2539505509 | Health Risk | Pathogenic | — |
| RS2540470663 | Health Risk | Pathogenic | — |
| RS2540470879 | Health Risk | Pathogenic | — |
| RS2540545009 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Intellectual disability |
| RS2540597400 | Health Risk | Pathogenic | — |
| RS267607136 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Abnormality of the nervous system |
| RS373701249 | Health Risk | Pathogenic | Abnormality of the nervous system, Intellectual disability, autosomal recessive 13 |
| RS587780486 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 13, Inborn genetic diseases |
| RS751929745 | Health Risk | Pathogenic | — |