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
RS200508160 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS200732314 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS200770631 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200959957 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS201093313 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201213605 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201227573 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Ullrich congenital muscular dystrophy 1A
RS201322581 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Ullrich congenital muscular dystrophy 1A
RS201365474 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS201835072 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS201935658 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS202212586 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS2077761954 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS2077817384 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077822326 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123474665 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123485173 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Inborn genetic diseases, Ullrich congenital muscular dystrophy 1A
RS367650141 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS367832752 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Bethlem myopathy 1A
RS368088970 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS368239109 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS368307185 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Inborn genetic diseases
RS368561027 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS368580280 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS368651226 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder, Bethlem myopathy 1A
RS369123247 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369502543 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369590506 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369764291 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369802454 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS369946755 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A, Bethlem myopathy 1A
RS370391371 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS370632963 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS370641081 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS370780432 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Uterine carcinosarcoma
RS370889024 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS371111712 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS371425947 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS371841573 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS372199631 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Inborn genetic diseases
RS372581026 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS372619016 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS372627181 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS372725624 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS372750707 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS372931456 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373070436 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373383488 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373486149 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373511343 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
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