COL4A5 Chromosome X
Collagen type IV alpha 5 chain
Upload your DNA to see your personal genotypes for variants in COL4A5.
What This Gene Does
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
Network forming collagens
Locus Type
gene with protein product
Location
Xq22.3
Ensembl
ENSG00000188153
Associated Conditions (36)
X-linked Alport syndrome
Alport syndrome
COL4A5-related disorder
Inborn genetic diseases
Autosomal dominant Alport syndrome
Lung cancer
See cases
Kidney disorder
Thyroid cancer
nonmedullary
1
Hearing impairment
Disease of glomerular basement membrane
Rare disease with thoracic aortic aneurysm and aortic dissection
Microscopic hematuria
Hematuria
Familial hematuria
Steroid-resistant nephrotic syndrome
Proteinuria
Rare genetic deafness
+16 more conditions
Key Variants
RS104886059
Conflicting classifications of pathogenicity
X-linked Alport syndrome, X-linked Alport syndrome, X-linked Alport syndrome
Health Risk
RS104886067
Conflicting classifications of pathogenicity
Health Risk
RS104886071
Conflicting classifications of pathogenicity
X-linked Alport syndrome, Alport syndrome, X-linked Alport syndrome
Health Risk
RS104886094
Conflicting classifications of pathogenicity
X-linked Alport syndrome, COL4A5-related disorder, X-linked Alport syndrome
Health Risk
RS104886102
Conflicting classifications of pathogenicity
X-linked Alport syndrome, Inborn genetic diseases, X-linked Alport syndrome
Health Risk
RS104886143
Conflicting classifications of pathogenicity
X-linked Alport syndrome, X-linked Alport syndrome
Health Risk
RS104886164
Conflicting classifications of pathogenicity
X-linked Alport syndrome, COL4A5-related disorder, X-linked Alport syndrome
Health Risk
RS104886192
Conflicting classifications of pathogenicity
X-linked Alport syndrome, Autosomal dominant Alport syndrome, COL4A5-related disorder
Health Risk
RS104886270
Conflicting classifications of pathogenicity
X-linked Alport syndrome, X-linked Alport syndrome
Health Risk
RS104886285
Conflicting classifications of pathogenicity
Health Risk
RS104886294
Conflicting classifications of pathogenicity
Health Risk
RS104886314
Conflicting classifications of pathogenicity
X-linked Alport syndrome, See cases, Inborn genetic diseases
Health Risk
All Variants (1069)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104886303 | Health Risk | Pathogenic | X-linked Alport syndrome, Alport syndrome, COL4A5-related disorder |
| RS104886305 | Health Risk | Pathogenic | — |
| RS104886306 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886312 | Health Risk | Pathogenic | Autosomal dominant Alport syndrome, Thyroid cancer, nonmedullary |
| RS104886313 | Health Risk | Pathogenic | — |
| RS104886319 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886332 | Health Risk | Pathogenic | — |
| RS104886338 | Health Risk | Pathogenic | X-linked Alport syndrome, COL4A5-related disorder, Thyroid cancer |
| RS104886339 | Health Risk | Pathogenic | — |
| RS104886340 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886341 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886344 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886348 | Health Risk | Pathogenic | — |
| RS104886371 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886372 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886375 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886378 | Health Risk | Pathogenic | — |
| RS104886385 | Health Risk | Pathogenic | — |
| RS104886388 | Health Risk | Pathogenic | X-linked Alport syndrome, Hematuria, X-linked Alport syndrome |
| RS104886395 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886413 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886427 | Health Risk | Pathogenic | — |
| RS104886431 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886434 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886440 | Health Risk | Pathogenic | X-linked Alport syndrome, Alport syndrome, X-linked Alport syndrome |
| RS104886443 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS104886453 | Health Risk | Pathogenic | — |
| RS1057516203 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS1060499694 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS1064794029 | Health Risk | Pathogenic | — |
| RS1085307808 | Health Risk | Pathogenic | — |
| RS1170254952 | Health Risk | Pathogenic | — |
| RS1231112953 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS1290001124 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS1381117009 | Health Risk | Pathogenic | Alport syndrome, Alport syndrome |
| RS1556403276 | Health Risk | Pathogenic | — |
| RS1556405010 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS1556405916 | Health Risk | Pathogenic | — |
| RS1556405926 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS1556406736 | Health Risk | Pathogenic | — |
| RS1556410266 | Health Risk | Pathogenic | — |
| RS1556411578 | Health Risk | Pathogenic | Hematuria, Kidney damage, Downslanted palpebral fissures |
| RS1556411631 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS1556419800 | Health Risk | Pathogenic | — |
| RS1556419869 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS1556420349 | Health Risk | Pathogenic | X-linked Alport syndrome, Alport syndrome, X-linked Alport syndrome |
| RS1556439394 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS1556446493 | Health Risk | Pathogenic | Chronic kidney disease, Elevated mean arterial pressure, Microscopic hematuria |
| RS1556446657 | Health Risk | Pathogenic | — |
| RS1556451235 | Health Risk | Pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |