COL4A5 Chromosome X
Collagen type IV alpha 5 chain
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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 |
|---|---|---|---|
| RS2524654509 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS281874668 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS281874673 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, Alport syndrome, X-linked Alport syndrome |
| RS281874674 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome, X-linked Alport syndrome |
| RS281874689 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS281874692 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome, X-linked Alport syndrome |
| RS281874702 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS281874713 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, COL4A5-related disorder, X-linked Alport syndrome |
| RS281874735 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS281874750 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS281874759 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS281874763 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, Alport syndrome, X-linked Alport syndrome |
| RS587776401 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS587776402 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS760109866 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS763538451 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, Thyroid cancer, nonmedullary |
| RS797045035 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS867625069 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |
| RS878853114 | Health Risk | Pathogenic/Likely pathogenic | X-linked Alport syndrome, X-linked Alport syndrome |