TUBGCP6 Chromosome 22
Tubulin gamma complex component 6
Upload your DNA to see your personal genotypes for variants in TUBGCP6.
What This Gene Does
The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Tubulin gamma complex component family
Locus Type
gene with protein product
Location
22q13.33
Ensembl
ENSG00000128159
Associated Conditions (7)
Uterine corpus endometrial carcinoma
Inborn genetic diseases
TUBGCP6-related disorder
Microcephaly and chorioretinopathy 1
Retinal dystrophy
Malignant tumor of urinary bladder
Microcephaly and chorioretinopathy with or without intellectual disability
Key Variants
RS114942206
Conflicting classifications of pathogenicity
Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
Health Risk
RS1238471583
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1266725037
Conflicting classifications of pathogenicity
Health Risk
RS137934849
Conflicting classifications of pathogenicity
Inborn genetic diseases, TUBGCP6-related disorder, Inborn genetic diseases
Health Risk
RS138586345
Conflicting classifications of pathogenicity
Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
Health Risk
RS139509927
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139974572
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140699312
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140730243
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141805017
Conflicting classifications of pathogenicity
Health Risk
RS142435821
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148601529
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (173)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755344399 | Health Risk | Pathogenic | — |
| RS756859244 | Health Risk | Pathogenic | — |
| RS758277011 | Health Risk | Pathogenic | — |
| RS765535822 | Health Risk | Pathogenic | — |
| RS766653635 | Health Risk | Pathogenic | — |
| RS770218767 | Health Risk | Pathogenic | — |
| RS770253928 | Health Risk | Pathogenic | Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1 |
| RS770606127 | Health Risk | Pathogenic | — |
| RS772174079 | Health Risk | Pathogenic | Microcephaly and chorioretinopathy with or without intellectual disability, Microcephaly and chorioretinopathy with or without intellectual disability |
| RS772772535 | Health Risk | Pathogenic | — |
| RS868312344 | Health Risk | Pathogenic | — |
| RS936296358 | Health Risk | Pathogenic | — |
| RS946708699 | Health Risk | Pathogenic | — |
| RS967859778 | Health Risk | Pathogenic | — |
| RS1056686381 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1 |
| RS1260456579 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2147184688 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1 |
| RS724159975 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1 |
| RS756544270 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1 |
| RS760024638 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1 |
| RS776065095 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1 |
| RS886041788 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS951221380 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1 |