COL11A1 Chromosome 1
Collagen type XI alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL11A1.
What This Gene Does
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Fibrillar collagens
Locus Type
gene with protein product
Location
1p21.1
Ensembl
ENSG00000060718
Associated Conditions (29)
Inborn genetic diseases
Fibrochondrogenesis 1
Stickler syndrome type 2
Marshall syndrome
Intervertebral disc disorder
Hearing loss
autosomal dominant 37
COL11A1-related disorder
Stickler syndrome
Connective tissue disorder
Meniere disease
Squamous cell carcinoma of the head and neck
Hearing impairment
CHEK2-related cancer predisposition
Retinal dystrophy
Fibrochondrogenesis
Childhood onset hearing loss
Skeletal dysplasia
See cases
Familial cancer of breast
+9 more conditions
Key Variants
RS1001275411
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1010235940
Conflicting classifications of pathogenicity
Fibrochondrogenesis 1, Stickler syndrome type 2, Fibrochondrogenesis 1
Health Risk
RS1040168773
Conflicting classifications of pathogenicity
Marshall syndrome, Stickler syndrome type 2, Intervertebral disc disorder
Health Risk
RS1043927378
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057518666
Conflicting classifications of pathogenicity
Stickler syndrome type 2, Stickler syndrome, Stickler syndrome type 2
Health Risk
RS1057524237
Conflicting classifications of pathogenicity
Marshall syndrome, Marshall syndrome
Health Risk
RS114630202
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1156500992
Conflicting classifications of pathogenicity
Health Risk
RS1166096502
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1173031118
Conflicting classifications of pathogenicity
Health Risk
RS1194043670
Conflicting classifications of pathogenicity
Health Risk
RS1194226000
Conflicting classifications of pathogenicity
Health Risk
All Variants (452)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2524484819 | Health Risk | Likely pathogenic | Stickler syndrome type 2, Stickler syndrome type 2 |
| RS2524496392 | Health Risk | Likely pathogenic | — |
| RS2524553668 | Health Risk | Likely pathogenic | — |
| RS2524570148 | Health Risk | Likely pathogenic | — |
| RS2524570658 | Health Risk | Likely pathogenic | — |
| RS2524688567 | Health Risk | Likely pathogenic | Stickler syndrome type 2, Stickler syndrome type 2 |
| RS2524694574 | Health Risk | Likely pathogenic | COL11A1-related disorder, COL11A1-related disorder |
| RS2524726100 | Health Risk | Likely pathogenic | — |
| RS2524790740 | Health Risk | Likely pathogenic | — |
| RS2524792669 | Health Risk | Likely pathogenic | COL11A1-related disorder, COL11A1-related disorder |
| RS2524927748 | Health Risk | Likely pathogenic | — |
| RS2525109250 | Health Risk | Likely pathogenic | Stickler syndrome type 2, Marshall syndrome, Stickler syndrome type 2 |
| RS2525300740 | Health Risk | Likely pathogenic | — |
| RS2525350703 | Health Risk | Likely pathogenic | — |
| RS2525351411 | Health Risk | Likely pathogenic | — |
| RS2525370860 | Health Risk | Likely pathogenic | — |
| RS2525386670 | Health Risk | Likely pathogenic | — |
| RS2525433079 | Health Risk | Likely pathogenic | — |
| RS2525670078 | Health Risk | Likely pathogenic | — |
| RS2526190236 | Health Risk | Likely pathogenic | Marshall syndrome, Marshall syndrome |
| RS755396177 | Health Risk | Likely pathogenic | — |
| RS886042660 | Health Risk | Likely pathogenic | — |
| RS1057517989 | Health Risk | Pathogenic | Stickler syndrome, Stickler syndrome type 2, Inborn genetic diseases |
| RS1162597563 | Health Risk | Pathogenic | — |
| RS1185917760 | Health Risk | Pathogenic | — |
| RS121912943 | Health Risk | Pathogenic | Stickler syndrome type 2, Stickler syndrome type 2 |
| RS121912944 | Health Risk | Pathogenic | Marshall/Stickler syndrome, Marshall/Stickler syndrome |
| RS1274185001 | Health Risk | Pathogenic | — |
| RS1341498364 | Health Risk | Pathogenic | — |
| RS1469521034 | Health Risk | Pathogenic | — |
| RS1553200868 | Health Risk | Pathogenic | — |
| RS1553223152 | Health Risk | Pathogenic | Stickler syndrome type 2, Stickler syndrome type 2 |
| RS1557812993 | Health Risk | Pathogenic | Fibrochondrogenesis, Fibrochondrogenesis |
| RS1570877567 | Health Risk | Pathogenic | Fibrochondrogenesis 1, Fibrochondrogenesis 1 |
| RS1651323625 | Health Risk | Pathogenic | — |
| RS1661835277 | Health Risk | Pathogenic | — |
| RS2100852410 | Health Risk | Pathogenic | — |
| RS2100852418 | Health Risk | Pathogenic | Marshall syndrome, Stickler syndrome type 2, Hearing loss |
| RS2100925460 | Health Risk | Pathogenic | — |
| RS2101017789 | Health Risk | Pathogenic | — |
| RS2101038943 | Health Risk | Pathogenic | Marshall syndrome, Marshall syndrome |
| RS2101066494 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2101074868 | Health Risk | Pathogenic | Stickler syndrome type 2, Stickler syndrome type 2 |
| RS2101305801 | Health Risk | Pathogenic | — |
| RS2101652956 | Health Risk | Pathogenic | — |
| RS2101653580 | Health Risk | Pathogenic | Stickler syndrome type 2, Stickler syndrome type 2 |
| RS2101683875 | Health Risk | Pathogenic | — |
| RS2101869722 | Health Risk | Pathogenic | Stickler syndrome, Stickler syndrome |
| RS2524179376 | Health Risk | Pathogenic | — |
| RS2524193671 | Health Risk | Pathogenic | — |