COL13A1 Chromosome 10
Collagen type XIII alpha 1 chain
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What This Gene Does
This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Membrane associated collagens with interrupted triple helices
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000197467
Associated Conditions (7)
Inborn genetic diseases
COL13A1-related disorder
Congenital myasthenic syndrome 19
See cases
Thyroid cancer
nonmedullary
1
Key Variants
RS147220162
Conflicting classifications of pathogenicity
Inborn genetic diseases, COL13A1-related disorder, Inborn genetic diseases
Health Risk
RS199809931
Conflicting classifications of pathogenicity
COL13A1-related disorder, Inborn genetic diseases, COL13A1-related disorder
Health Risk
RS200098419
Conflicting classifications of pathogenicity
COL13A1-related disorder, Inborn genetic diseases, COL13A1-related disorder
Health Risk
RS200138483
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200447906
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital myasthenic syndrome 19, Inborn genetic diseases
Health Risk
RS201399235
Conflicting classifications of pathogenicity
Health Risk
RS546473709
Conflicting classifications of pathogenicity
COL13A1-related disorder, COL13A1-related disorder
Health Risk
RS755741181
Conflicting classifications of pathogenicity
Health Risk
RS757550207
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
Health Risk
RS774661219
Conflicting classifications of pathogenicity
COL13A1-related disorder, Inborn genetic diseases, COL13A1-related disorder
Health Risk
RS1037783253
Likely pathogenic
Health Risk
RS1057204973
Likely pathogenic
Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147220162 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, COL13A1-related disorder, Inborn genetic diseases |
| RS199809931 | Health Risk | Conflicting classifications of pathogenicity | COL13A1-related disorder, Inborn genetic diseases, COL13A1-related disorder |
| RS200098419 | Health Risk | Conflicting classifications of pathogenicity | COL13A1-related disorder, Inborn genetic diseases, COL13A1-related disorder |
| RS200138483 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200447906 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital myasthenic syndrome 19, Inborn genetic diseases |
| RS201399235 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS546473709 | Health Risk | Conflicting classifications of pathogenicity | COL13A1-related disorder, COL13A1-related disorder |
| RS755741181 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757550207 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS774661219 | Health Risk | Conflicting classifications of pathogenicity | COL13A1-related disorder, Inborn genetic diseases, COL13A1-related disorder |
| RS1037783253 | Health Risk | Likely pathogenic | — |
| RS1057204973 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS1236369546 | Health Risk | Likely pathogenic | — |
| RS1415756232 | Health Risk | Likely pathogenic | — |
| RS1480562957 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS1554943789 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS1589245442 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2060029845 | Health Risk | Likely pathogenic | — |
| RS2134557917 | Health Risk | Likely pathogenic | — |
| RS2544717844 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS2545815673 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS375471249 | Health Risk | Likely pathogenic | — |
| RS745399967 | Health Risk | Likely pathogenic | — |
| RS759296053 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS763197055 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS894208635 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS962070481 | Health Risk | Likely pathogenic | — |
| RS1340672941 | Health Risk | Pathogenic | — |
| RS1421407425 | Health Risk | Pathogenic | — |
| RS1554967575 | Health Risk | Pathogenic | — |
| RS2064735979 | Health Risk | Pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS2065959942 | Health Risk | Pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS2132621652 | Health Risk | Pathogenic | — |
| RS2134842358 | Health Risk | Pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS2135829327 | Health Risk | Pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS2136077497 | Health Risk | Pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS2544553087 | Health Risk | Pathogenic | — |
| RS763281993 | Health Risk | Pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS769426298 | Health Risk | Pathogenic | — |
| RS776339682 | Health Risk | Pathogenic | — |
| RS864309662 | Health Risk | Pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS864309663 | Health Risk | Pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS1564932829 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS769673346 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |