COL6A1 Chromosome 21

Collagen type VI alpha 1 chain
493 variants 493 Health Risk

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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
RS373535692 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder, Cervical cancer
RS373731596 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS373909354 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373948031 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS374315921 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Inborn genetic diseases
RS374685631 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Ullrich congenital muscular dystrophy 1A
RS374896651 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS374926748 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Ullrich congenital muscular dystrophy 1A
RS375007666 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS375217284 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Inborn genetic diseases
RS375318905 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS375452881 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS375638855 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS375831680 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS376055208 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376061269 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376196793 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376567898 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
RS376592866 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS376764211 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS376807461 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376999117 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Inborn genetic diseases
RS377213930 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS377455608 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Collagen 6-related myopathy
RS377586358 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123630 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123632 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS398123633 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123634 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123635 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, COL6A1-related disorder
RS398123636 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS398123637 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123638 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS398123641 Health Risk Conflicting classifications of pathogenicity —
RS527265374 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS529770550 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS536370523 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS536786554 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS537366421 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS537763400 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS540554122 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS544927344 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS552239546 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS552634753 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS556176545 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS558291025 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS560001473 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS562898957 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A, Inborn genetic diseases
RS563043611 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder, Bethlem myopathy 1A
RS566601241 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
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