COL27A1 Chromosome 9
Collagen type XXVII alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL27A1.
What This Gene Does
This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Fibrillar collagens"
Locus Type
gene with protein product
Location
9q32
Ensembl
ENSG00000196739
Associated Conditions (8)
Inborn genetic diseases
COL27A1-related disorder
Steel syndrome
Clear cell carcinoma of kidney
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Key Variants
RS1039017551
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS113786411
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS114770711
Conflicting classifications of pathogenicity
Inborn genetic diseases, COL27A1-related disorder, Inborn genetic diseases
Health Risk
RS139237104
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141446597
Conflicting classifications of pathogenicity
Health Risk
RS141452198
Conflicting classifications of pathogenicity
Inborn genetic diseases, Steel syndrome, Inborn genetic diseases
Health Risk
RS142594229
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142603479
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142652014
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143912297
Conflicting classifications of pathogenicity
COL27A1-related disorder, Inborn genetic diseases, COL27A1-related disorder
Health Risk
RS144068722
Conflicting classifications of pathogenicity
Inborn genetic diseases, COL27A1-related disorder, Inborn genetic diseases
Health Risk
RS146162741
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (179)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS747841271 | Health Risk | Likely pathogenic | — |
| RS760476125 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS766405509 | Health Risk | Likely pathogenic | — |
| RS1164929312 | Health Risk | Pathogenic | — |
| RS1213672903 | Health Risk | Pathogenic | — |
| RS1220881640 | Health Risk | Pathogenic | Steel syndrome, Steel syndrome |
| RS1248510232 | Health Risk | Pathogenic | — |
| RS1289391715 | Health Risk | Pathogenic | Steel syndrome, Thyroid cancer, nonmedullary |
| RS1313055571 | Health Risk | Pathogenic | — |
| RS1330961789 | Health Risk | Pathogenic | — |
| RS1401322428 | Health Risk | Pathogenic | Steel syndrome, Steel syndrome |
| RS140950220 | Health Risk | Pathogenic | Steel syndrome, COL27A1-related disorder, Steel syndrome |
| RS1431754712 | Health Risk | Pathogenic | — |
| RS1440582784 | Health Risk | Pathogenic | — |
| RS1554787366 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554787559 | Health Risk | Pathogenic | Steel syndrome, Steel syndrome |
| RS1554821679 | Health Risk | Pathogenic | Steel syndrome, Steel syndrome |
| RS1554822800 | Health Risk | Pathogenic | — |
| RS1554829390 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1564578862 | Health Risk | Pathogenic | — |
| RS1588550383 | Health Risk | Pathogenic | Steel syndrome, Steel syndrome |
| RS1827707651 | Health Risk | Pathogenic | — |
| RS1830954329 | Health Risk | Pathogenic | Steel syndrome, Steel syndrome |
| RS1832681636 | Health Risk | Pathogenic | — |
| RS1836077490 | Health Risk | Pathogenic | — |
| RS1849030350 | Health Risk | Pathogenic | — |
| RS1849075301 | Health Risk | Pathogenic | — |
| RS1849155569 | Health Risk | Pathogenic | — |
| RS199641806 | Health Risk | Pathogenic | — |
| RS2131616094 | Health Risk | Pathogenic | — |
| RS2131663679 | Health Risk | Pathogenic | — |
| RS2131700308 | Health Risk | Pathogenic | — |
| RS2135073208 | Health Risk | Pathogenic | — |
| RS2135075507 | Health Risk | Pathogenic | — |
| RS2135078208 | Health Risk | Pathogenic | — |
| RS2135083222 | Health Risk | Pathogenic | — |
| RS2135087452 | Health Risk | Pathogenic | — |
| RS2135241404 | Health Risk | Pathogenic | — |
| RS2135298547 | Health Risk | Pathogenic | — |
| RS2135434002 | Health Risk | Pathogenic | — |
| RS2135453120 | Health Risk | Pathogenic | — |
| RS2135591632 | Health Risk | Pathogenic | — |
| RS2135594366 | Health Risk | Pathogenic | Steel syndrome, Steel syndrome |
| RS2135622964 | Health Risk | Pathogenic | — |
| RS2135666480 | Health Risk | Pathogenic | — |
| RS2490277067 | Health Risk | Pathogenic | — |
| RS2490277553 | Health Risk | Pathogenic | — |
| RS2490280816 | Health Risk | Pathogenic | — |
| RS2490350737 | Health Risk | Pathogenic | — |
| RS2490381940 | Health Risk | Pathogenic | — |