TBCD Chromosome 17
Tubulin folding cofactor D
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What This Gene Does
Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000141556
Associated Conditions (10)
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
See cases
Inborn genetic diseases
Intellectual disability
TBCD-related disorder
Thiel-Behnke corneal dystrophy
Gastric cancer
Nonpapillary renal cell carcinoma
Hepatocellular carcinoma
Familial cancer of breast
Key Variants
RS1014471246
Conflicting classifications of pathogenicity
Health Risk
RS1064796675
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS116536514
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1276630036
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS1284192515
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS1311737177
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS139015738
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS183349235
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS183455339
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS186699341
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS187081192
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS188081246
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1014471246 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064796675 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS116536514 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1276630036 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS1284192515 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS1311737177 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS139015738 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS183349235 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS183455339 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS186699341 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS187081192 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS188081246 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS189185507 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, TBCD-related disorder, Inborn genetic diseases |
| RS199609098 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199972447 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200557085 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200903034 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201042677 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201980005 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS202149526 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, TBCD-related disorder, Inborn genetic diseases |
| RS2061363316 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS34791072 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases, TBCD-related disorder |
| RS367596929 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367985432 | Health Risk | Conflicting classifications of pathogenicity | TBCD-related disorder, TBCD-related disorder |
| RS368808896 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS369672739 | Health Risk | Conflicting classifications of pathogenicity | Thiel-Behnke corneal dystrophy, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, TBCD-related disorder |
| RS370029470 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370259014 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS370658754 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases |
| RS371823710 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372479408 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372679788 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374267988 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375327000 | Health Risk | Conflicting classifications of pathogenicity | TBCD-related disorder, Inborn genetic diseases, TBCD-related disorder |
| RS376947064 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS533171147 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS569286722 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747729228 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Gastric cancer, Inborn genetic diseases |
| RS755177846 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS760635077 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS761114963 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761476887 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772606107 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS778041055 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS780523169 | Health Risk | Conflicting classifications of pathogenicity | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, TBCD-related disorder, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS1362008756 | Health Risk | Likely pathogenic | — |
| RS1568075346 | Health Risk | Likely pathogenic | TBCD-related disorder, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, TBCD-related disorder |
| RS1568177942 | Health Risk | Likely pathogenic | — |
| RS1599617641 | Health Risk | Likely pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS187099741 | Health Risk | Likely pathogenic | — |