COL4A1 Chromosome 13
Collagen type IV alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL4A1.
What This Gene Does
This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
Network forming collagens
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000187498
Associated Conditions (44)
COL4A1-related disorder
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy
pontine
autosomal dominant
Retinal arterial tortuosity
Hemorrhage
intracerebral
susceptibility to
Inborn genetic diseases
Intellectual disability
Congenital anomaly of kidney and urinary tract
Schizencephaly
Uterine carcinosarcoma
Primary membranoproliferative glomerulonephritis
Optic nerve hypoplasia
Chronic kidney disease
Melanoma
HANAC-like syndrome
+24 more conditions
Key Variants
RS1004640402
Conflicting classifications of pathogenicity
COL4A1-related disorder, COL4A1-related disorder
Health Risk
RS1013805396
Conflicting classifications of pathogenicity
Health Risk
RS1057517719
Conflicting classifications of pathogenicity
Health Risk
RS1057519191
Conflicting classifications of pathogenicity
Health Risk
RS1064796811
Conflicting classifications of pathogenicity
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
Health Risk
RS1085307967
Conflicting classifications of pathogenicity
Health Risk
RS113651836
Conflicting classifications of pathogenicity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Health Risk
RS1179536054
Conflicting classifications of pathogenicity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy
Health Risk
RS1348341976
Conflicting classifications of pathogenicity
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
Health Risk
RS138266832
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, Inborn genetic diseases
Health Risk
RS138269346
Conflicting classifications of pathogenicity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Inborn genetic diseases, Brain small vessel disease 1 with or without ocular anomalies
Health Risk
RS138503916
Conflicting classifications of pathogenicity
COL4A1-related disorder, Inborn genetic diseases, COL4A1-related disorder
Health Risk
All Variants (400)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201812821 | Health Risk | Conflicting classifications of pathogenicity | Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy |
| RS201964644 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS202209298 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy |
| RS2085999500 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy |
| RS34004222 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Optic nerve hypoplasia, Chronic kidney disease |
| RS368900861 | Health Risk | Conflicting classifications of pathogenicity | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS369960952 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS370539477 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370670458 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370673476 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370677625 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, COL4A1-related disorder, Brain small vessel disease 1 with or without ocular anomalies |
| RS370939644 | Health Risk | Conflicting classifications of pathogenicity | Hemorrhage, intracerebral, susceptibility to |
| RS372556002 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS372750171 | Health Risk | Conflicting classifications of pathogenicity | HANAC-like syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity |
| RS372803920 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS373696600 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS374115295 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS374223828 | Health Risk | Conflicting classifications of pathogenicity | COL4A1-related disorder, COL4A1-related disorder |
| RS374930028 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Inborn genetic diseases |
| RS375477517 | Health Risk | Conflicting classifications of pathogenicity | Hemorrhage, intracerebral, susceptibility to |
| RS375787099 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, COL4A1-related disorder |
| RS375980154 | Health Risk | Conflicting classifications of pathogenicity | Hemorrhage, intracerebral, susceptibility to |
| RS376607450 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS377122126 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, COL4A1-related disorder |
| RS377503687 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS527530568 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy |
| RS531373470 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy |
| RS538721412 | Health Risk | Conflicting classifications of pathogenicity | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS540983592 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity, Hemorrhage |
| RS545498227 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS557198622 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy |
| RS567124920 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine |
| RS569940067 | Health Risk | Conflicting classifications of pathogenicity | Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine |
| RS570009776 | Health Risk | Conflicting classifications of pathogenicity | Brain small vessel disease 1 with or without ocular anomalies, Retinal arterial tortuosity, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS570472326 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Brain small vessel disease 1 with or without ocular anomalies, Hemorrhage |
| RS576636085 | Health Risk | Conflicting classifications of pathogenicity | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant |
| RS747250117 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy, pontine |
| RS747585517 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Congenital anomaly of kidney and urinary tract, Brain small vessel disease 1 with or without ocular anomalies |
| RS749003041 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749215704 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS749942977 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750538499 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS750620293 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Inborn genetic diseases |
| RS751234195 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751749989 | Health Risk | Conflicting classifications of pathogenicity | Schizencephaly, Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies |
| RS751951004 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752009614 | Health Risk | Conflicting classifications of pathogenicity | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS752346924 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753818473 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Hemorrhage |
| RS754034347 | Health Risk | Conflicting classifications of pathogenicity | Hemorrhage, intracerebral, susceptibility to |