COL6A1 Chromosome 21
Collagen type VI alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL6A1.
What This Gene Does
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Collagens
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000142156
Associated Conditions (25)
Bethlem myopathy 1A
COL6A1-related disorder
Melanoma
Collagen 6-related myopathy
Inborn genetic diseases
Ullrich congenital muscular dystrophy 1A
Sarcoma
Squamous cell carcinoma of the head and neck
Ehlers-Danlos syndrome
Uterine carcinosarcoma
Cervical cancer
Uterine corpus endometrial carcinoma
Thymoma
Familial cancer of breast
Proximal muscle weakness
Nonpapillary renal cell carcinoma
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A
AUTOSOMAL DOMINANT
Abnormality of the musculature
Sensorimotor neuropathy
+5 more conditions
Key Variants
RS1057520625
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS1085307560
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS111451684
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, COL6A1-related disorder, Bethlem myopathy 1A
Health Risk
RS112104768
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, COL6A1-related disorder, Bethlem myopathy 1A
Health Risk
RS11702055
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Melanoma, Bethlem myopathy 1A
Health Risk
RS117583120
Conflicting classifications of pathogenicity
Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
Health Risk
RS1180948133
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
Health Risk
RS1203093809
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS1224432118
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
Health Risk
RS1226087945
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS1235398371
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS1237092252
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
All Variants (493)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS398123640 | Health Risk | Pathogenic | Limb-girdle muscle weakness, EMG abnormality, Motor delay |
| RS398123643 | Health Risk | Pathogenic | Bethlem myopathy 1A, Collagen 6-related myopathy, Ullrich congenital muscular dystrophy 1A |
| RS747419878 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS759918870 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS797044457 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A |
| RS797044458 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A |
| RS797045477 | Health Risk | Pathogenic | Myopathy, Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS878854398 | Health Risk | Pathogenic | Bethlem myopathy 1A, COL6A1-related disorder, Bethlem myopathy 1A |
| RS886042354 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886042748 | Health Risk | Pathogenic | Bethlem myopathy 1B, Bethlem myopathy 1B |
| RS886043106 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886043147 | Health Risk | Pathogenic | — |
| RS886043291 | Health Risk | Pathogenic | — |
| RS886043330 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Abnormality of the musculature |
| RS886044535 | Health Risk | Pathogenic | Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A |
| RS1057519174 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, COL6A1-related disorder, Bethlem myopathy 1A |
| RS1057521152 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS121912938 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A |
| RS1304888945 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1330933906 | Health Risk | Pathogenic/Likely pathogenic | COL6A1-related disorder, Bethlem myopathy 1A, COL6A1-related disorder |
| RS1401779653 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1556423703 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1556425468 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Bethlem myopathy 1A, Collagen 6-related myopathy |
| RS1556425531 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1556425596 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A |
| RS1556425687 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1556425853 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1569518138 | Health Risk | Pathogenic/Likely pathogenic | Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A |
| RS1569518725 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1603590649 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A |
| RS398123639 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS398123644 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS794727028 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS797044456 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886041383 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A |
| RS886042684 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886042856 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS886043114 | Health Risk | Pathogenic/Likely pathogenic | Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A |
| RS886043351 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Collagen 6-related myopathy |
| RS886043354 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886044231 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886044511 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS940473416 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |