COL4A1 (collagen type IV alpha 1 chain) - Rat Genome Database

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Gene: COL4A1 (collagen type IV alpha 1 chain) Homo sapiens
Analyze
Symbol: COL4A1
Name: collagen type IV alpha 1 chain
RGD ID: 1316170
HGNC Page HGNC:2202
Description: Enables platelet-derived growth factor binding activity. An extracellular matrix structural constituent conferring tensile strength. Involved in basement membrane organization; brain development; and tube morphogenesis. Located in collagen-containing extracellular matrix. Part of collagen type IV trimer. Implicated in brain small vessel disease 1; myocardial infarction; retinal arterial tortuosity; and uterine fibroid. Biomarker of uterine fibroid.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: arresten; BSVD; BSVD1; COL4A1 NC1 domain; COL4A1s; collagen alpha-1(IV) chain; collagen IV, alpha-1 polypeptide; collagen of basement membrane, alpha-1 chain; collagen type IV alpha 1; collagen, type IV, alpha 1; HANAC; ICH; PADMAL; POREN1; RATOR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813110,148,963 - 110,307,157 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13110,148,963 - 110,307,202 (-)EnsemblGRCh38hg38GRCh38
GRCh3713110,801,310 - 110,959,504 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613109,599,311 - 109,757,497 (-)NCBINCBI36Build 36hg18NCBI36
Build 3413109,599,311 - 109,757,459NCBI
Celera1391,645,588 - 91,803,669 (-)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1391,400,456 - 91,558,957 (-)NCBIHuRef
CHM1_113110,770,028 - 110,927,927 (-)NCBICHM1_1
T2T-CHM13v2.013109,377,773 - 109,536,621 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-butoxyethanol  (ISO)
2-methylcholine  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6alpha-methylprednisolone  (ISO)
8'-apo-beta,psi-caroten-8'-al  (EXP)
acetaldehyde  (EXP)
acetamide  (ISO)
acrylamide  (EXP)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP,ISO)
aldosterone  (ISO)
Alisol B  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
AM-251  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antimycin A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
Azoxymethane  (ISO)
benazepril  (ISO)
benidipine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-carotene  (EXP)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (ISO)
busulfan  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calciol  (ISO)
cannabidiol  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
chlordecone  (ISO)
chloroacetaldehyde  (EXP)
chlorpromazine  (ISO)
choline  (ISO)
cidofovir anhydrous  (EXP)
ciglitazone  (ISO)
cisplatin  (EXP,ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
CU-O LINKAGE  (EXP)
curcumin  (EXP,ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP,ISO)
DDT  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dimethyl sulfoxide  (ISO)
dimethylarsinous acid  (EXP)
dioxygen  (EXP,ISO)
disulfiram  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
enalapril  (ISO)
endosulfan  (ISO)
eplerenone  (ISO)
ethanol  (ISO)
etoposide  (ISO)
fenofibrate  (ISO)
fenthion  (ISO)
fipronil  (ISO)
folic acid  (EXP,ISO)
folpet  (ISO)
fulvestrant  (EXP)
furan  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
griseofulvin  (ISO)
hydroquinone  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
losartan  (ISO)
LY294002  (ISO)
mangiferin  (ISO)
metformin  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
monocrotaline  (ISO)
N-acetyl-L-cysteine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
PCB138  (ISO)
pentane-2,3-dione  (ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorobutyric acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
pirfenidone  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sorafenib  (EXP)
streptozocin  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
thymoquinone  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichostatin A  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
Y-27632  (EXP)
zoledronic acid  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebellar vermis morphology  (IAGP)
Abnormal cerebral cortex morphology  (IAGP)
Abnormal cerebral morphology  (IAGP)
Abnormal circulating aldolase concentration  (IAGP)
Abnormal circulating creatine kinase concentration  (IAGP)
Abnormal circulating lactate dehydrogenase concentration  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal cortical gyration  (IAGP)
Abnormal optic nerve morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Absent septum pellucidum  (IAGP)
Adult onset  (IAGP)
Agenesis of corpus callosum  (IAGP)
Amblyopia  (IAGP)
Anophthalmia  (IAGP)
Aplasia/Hypoplasia involving the skeletal musculature  (IAGP)
Areflexia  (IAGP)
Astigmatism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Bifid uvula  (IAGP)
Blurred vision  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral calcification  (IAGP)
Cerebral hemorrhage  (IAGP)
Cerebral palsy  (IAGP)
Childhood onset  (IAGP)
Chorioretinal dysplasia  (IAGP)
Chronic kidney disease  (IAGP)
Cleft palate  (IAGP)
Cognitive impairment  (IAGP)
Colpocephaly  (IAGP)
Congenital onset  (IAGP)
Corneal neovascularization  (IAGP)
Corneal opacity  (IAGP)
Cortical dysplasia  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Dementia  (IAGP)
Developmental cataract  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Dilation of Virchow-Robin spaces  (IAGP)
Dystonia  (IAGP)
Ectopia pupillae  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Exotropia  (IAGP)
Facial paralysis  (IAGP)
Focal cortical dysplasia  (IAGP)
Focal-onset seizure  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hematuria  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia  (IAGP)
Hemolytic anemia  (IAGP)
Hydrocephalus  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hypermetropia  (IAGP)
Hypopigmentation of the fundus  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the iris  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intracranial hemorrhage  (IAGP)
Intraventricular hemorrhage  (IAGP)
Iris coloboma  (IAGP)
Ischemic stroke  (IAGP)
Keratoconus  (IAGP)
Lacunar stroke  (IAGP)
Leukoencephalopathy  (IAGP)
Limb dystonia  (IAGP)
Lissencephaly  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Metatarsus valgus  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microphthalmia  (IAGP)
Middle age onset  (IAGP)
Migraine  (IAGP)
Migraine with aura  (IAGP)
Multiple renal cysts  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myopia  (IAGP)
Ocular anterior segment dysgenesis  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pachygyria  (IAGP)
Peripapillary atrophy  (IAGP)
Photophobia  (IAGP)
Polycoria  (IAGP)
Polymicrogyria  (IAGP)
Porencephalic cyst  (IAGP)
Posteriorly rotated ears  (IAGP)
Postural instability  (IAGP)
Protruding ear  (IAGP)
Raynaud phenomenon  (IAGP)
Reduced factor X activity  (IAGP)
Reduced visual acuity  (IAGP)
Renal cyst  (IAGP)
Renal insufficiency  (IAGP)
Retinal arterial tortuosity  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Retinal detachment  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Retinal hemorrhage  (IAGP)
Retinal vascular tortuosity  (IAGP)
Schizencephaly  (IAGP)
Seizure  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Submucous cleft hard palate  (IAGP)
Supraventricular arrhythmia  (IAGP)
Tetraparesis  (IAGP)
Typified by incomplete penetrance  (IAGP)
Uterine leiomyoma  (IAGP)
Ventriculomegaly  (IAGP)
Visual field defect  (IAGP)
Visual loss  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. High resolution molecular and histological analysis of renal disease progression in ZSF1 fa/faCP rats, a model of type 2 diabetic nephropathy. Dower K, etal., PLoS One. 2017 Jul 26;12(7):e0181861. doi: 10.1371/journal.pone.0181861. eCollection 2017.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. Gould DB, etal., N Engl J Med. 2006 Apr 6;354(14):1489-96.
4. A possible role of thioredoxin interacting protein in the pathogenesis of streptozotocin-induced diabetic nephropathy. Hamada Y and Fukagawa M, Kobe J Med Sci. 2007;53(1-2):53-61.
5. Antibody blockade of c-fms suppresses the progression of inflammation and injury in early diabetic nephropathy in obese db/db mice. Lim AK, etal., Diabetologia. 2009 May 23.
6. Genome-wide DNA methylation analysis reveals a potential mechanism for the pathogenesis and development of uterine leiomyomas. Maekawa R, etal., PLoS One. 2013 Jun 20;8(6):e66632. doi: 10.1371/journal.pone.0066632. Print 2013.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. van der Knaap MS, etal., Ann Neurol. 2006 Mar;59(3):504-11.
14. Effects of angiotensin II intervention on MMP-2, MMP-9, TIMP-1, and collagen expression in rats with pulmonary hypertension. Wang XM, etal., Genet Mol Res. 2015 Mar 6;14(1):1707-17. doi: 10.4238/2015.March.6.17.
15. Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population. Yamada Y, etal., J Med Genet. 2008 Apr;45(4):216-21. Epub 2007 Dec 12.
Additional References at PubMed
PMID:1377218   PMID:1724753   PMID:2186699   PMID:2211625   PMID:2426947   PMID:2446864   PMID:2506015   PMID:2581969   PMID:2582422   PMID:2701944   PMID:2844531   PMID:2846280  
PMID:2891465   PMID:2895928   PMID:2987919   PMID:3006056   PMID:3025878   PMID:3182844   PMID:3224982   PMID:3311751   PMID:3571333   PMID:3691802   PMID:3714485   PMID:3753820  
PMID:3770740   PMID:3792303   PMID:3997552   PMID:4043082   PMID:6386565   PMID:6389236   PMID:6434307   PMID:6811420   PMID:6987668   PMID:6988303   PMID:7495302   PMID:7500359  
PMID:7613031   PMID:7827955   PMID:8006028   PMID:8317999   PMID:8662978   PMID:8889548   PMID:8900172   PMID:8995276   PMID:9094419   PMID:9136074   PMID:9169408   PMID:9334230  
PMID:9409248   PMID:9506531   PMID:9673377   PMID:9733643   PMID:9878537   PMID:10382266   PMID:10416788   PMID:10811134   PMID:11711546   PMID:11776869   PMID:11867580   PMID:11970952  
PMID:11994000   PMID:12011424   PMID:12180907   PMID:12477932   PMID:12524166   PMID:12574156   PMID:12812986   PMID:12847218   PMID:12878203   PMID:14702039   PMID:14718574   PMID:14732718  
PMID:15057823   PMID:15081423   PMID:15146197   PMID:15203218   PMID:15467744   PMID:15489334   PMID:15583824   PMID:15905400   PMID:16107487   PMID:16481288   PMID:16631378   PMID:17216253  
PMID:17339318   PMID:17696175   PMID:17700531   PMID:17938367   PMID:18050191   PMID:18061419   PMID:18160688   PMID:18560403   PMID:18669583   PMID:18775695   PMID:19194877   PMID:19422682  
PMID:19477666   PMID:19506372   PMID:19542224   PMID:19729652   PMID:19840616   PMID:19851296   PMID:19893454   PMID:19913121   PMID:19948975   PMID:19949034   PMID:20031579   PMID:20067797  
PMID:20083228   PMID:20166936   PMID:20198315   PMID:20301768   PMID:20379614   PMID:20385946   PMID:20452482   PMID:20506163   PMID:20558831   PMID:20628086   PMID:20673868   PMID:20818663  
PMID:21157337   PMID:21357838   PMID:21378990   PMID:21500141   PMID:21527998   PMID:21625620   PMID:21794054   PMID:21873635   PMID:21942715   PMID:22134833   PMID:22144573   PMID:22209247  
PMID:22253229   PMID:22261194   PMID:22395516   PMID:22522439   PMID:22573493   PMID:22574627   PMID:22784784   PMID:22868088   PMID:22876576   PMID:22914737   PMID:22919069   PMID:22931710  
PMID:22932948   PMID:23065703   PMID:23225343   PMID:23227231   PMID:23251661   PMID:23394911   PMID:23551189   PMID:23658023   PMID:23979707   PMID:24156251   PMID:24180678   PMID:24262325  
PMID:24317722   PMID:24628545   PMID:24742657   PMID:24823860   PMID:24951543   PMID:25037231   PMID:25118328   PMID:25124159   PMID:25228067   PMID:25425218   PMID:25593510   PMID:25686533  
PMID:26006016   PMID:26162539   PMID:26178375   PMID:26209635   PMID:26310581   PMID:26343951   PMID:26406420   PMID:26496610   PMID:26593852   PMID:26686511   PMID:26748532   PMID:26756417  
PMID:26879631   PMID:26973246   PMID:27068509   PMID:27190376   PMID:27231093   PMID:27435297   PMID:27559042   PMID:27648120   PMID:27666438   PMID:27794444   PMID:28005267   PMID:28017902  
PMID:28327460   PMID:28344315   PMID:28369186   PMID:28415608   PMID:28514442   PMID:28675934   PMID:28837258   PMID:28845540   PMID:29068597   PMID:29299748   PMID:29360590   PMID:29367254  
PMID:29477007   PMID:29507755   PMID:29512712   PMID:29604273   PMID:30089857   PMID:30273997   PMID:30315939   PMID:30321347   PMID:30351356   PMID:30383316   PMID:30413629   PMID:30578652  
PMID:30837194   PMID:30975489   PMID:31069993   PMID:31188637   PMID:31230195   PMID:31537649   PMID:31815553   PMID:31978696   PMID:32165822   PMID:32413593   PMID:32446163   PMID:32515830  
PMID:32732225   PMID:32746865   PMID:33148145   PMID:33247988   PMID:33268848   PMID:33284162   PMID:33891266   PMID:33961781   PMID:34281442   PMID:34281745   PMID:34415564   PMID:34691289  
PMID:34735964   PMID:35297303   PMID:35382634   PMID:35532293   PMID:35696571   PMID:36349777   PMID:36403858   PMID:36470425   PMID:37540089   PMID:37689310   PMID:37788672   PMID:38058103  
PMID:38331745   PMID:38334954   PMID:38630472   PMID:38747114   PMID:39216230  


Genomics

Comparative Map Data
COL4A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813110,148,963 - 110,307,157 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13110,148,963 - 110,307,202 (-)EnsemblGRCh38hg38GRCh38
GRCh3713110,801,310 - 110,959,504 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613109,599,311 - 109,757,497 (-)NCBINCBI36Build 36hg18NCBI36
Build 3413109,599,311 - 109,757,459NCBI
Celera1391,645,588 - 91,803,669 (-)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1391,400,456 - 91,558,957 (-)NCBIHuRef
CHM1_113110,770,028 - 110,927,927 (-)NCBICHM1_1
T2T-CHM13v2.013109,377,773 - 109,536,621 (-)NCBIT2T-CHM13v2.0
Col4a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39811,248,423 - 11,362,889 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl811,248,423 - 11,362,826 (-)EnsemblGRCm39 Ensembl
GRCm38811,198,423 - 11,312,889 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl811,198,423 - 11,312,826 (-)EnsemblGRCm38mm10GRCm38
MGSCv37811,198,423 - 11,312,826 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36811,198,403 - 11,312,702 (-)NCBIMGSCv36mm8
Celera811,372,057 - 11,487,438 (-)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map85.53NCBI
Col4a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81684,885,597 - 84,996,482 (+)NCBIGRCr8
mRatBN7.21678,183,533 - 78,294,412 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1678,183,533 - 78,294,412 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1683,463,953 - 83,574,826 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01686,916,625 - 87,027,510 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01682,157,396 - 82,268,610 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01683,522,162 - 83,632,153 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1683,522,162 - 83,632,153 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01682,987,857 - 83,097,435 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41683,045,183 - 83,157,835 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11683,031,106 - 83,143,679 (+)NCBI
Celera1675,981,231 - 76,092,476 (+)NCBICelera
Cytogenetic Map16q12.5NCBI
Col4a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554042,260,029 - 2,326,074 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554042,196,193 - 2,327,324 (+)NCBIChiLan1.0ChiLan1.0
COL4A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v214111,642,358 - 111,800,305 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan113110,324,917 - 110,482,747 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01391,282,617 - 91,440,187 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.113110,407,009 - 110,562,529 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13110,407,009 - 110,562,529 (-)Ensemblpanpan1.1panPan2
COL4A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12258,511,210 - 58,651,949 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2258,512,212 - 58,588,666 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2258,264,155 - 58,360,735 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02259,132,853 - 59,274,724 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2259,133,398 - 59,274,709 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12258,634,288 - 58,774,752 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02258,625,802 - 58,767,327 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02258,660,825 - 58,801,735 (-)NCBIUU_Cfam_GSD_1.0
Col4a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945193,408,026 - 193,536,112 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364722,416,566 - 2,542,814 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364722,416,043 - 2,543,561 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL4A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1176,858,356 - 76,997,322 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11176,858,332 - 76,997,409 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21184,372,388 - 84,460,293 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COL4A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1388,410,800 - 88,564,191 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl388,412,168 - 88,564,057 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604645,126,545 - 45,280,009 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col4a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247932,325,128 - 2,426,817 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247932,325,104 - 2,426,814 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COL4A1
2096 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001845.6(COL4A1):c.388G>A (p.Gly130Arg) single nucleotide variant not provided [RCV000722465] Chr13:110211922 [GRCh38]
Chr13:110864269 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV002476038]|Inborn genetic diseases [RCV002525031]|not provided [RCV003546569]|not specified [RCV000517537] Chr13:110192868 [GRCh38]
Chr13:110845215 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV001109408]|Brain small vessel disease 1 with or without ocular anomalies [RCV002248749]|not provided [RCV001313192]|not specified [RCV000517036] Chr13:110186444 [GRCh38]
Chr13:110838791 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247408] Chr13:110186513 [GRCh38]
Chr13:110838860 [GRCh37]
Chr13:13q34
pathogenic|not provided
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000989165]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247414]|Hemorrhage, intracerebral, susceptibility to [RCV000033090]|not provided [RCV000710795] Chr13:110201467 [GRCh38]
Chr13:110853814 [GRCh37]
Chr13:13q34
risk factor|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001845.6(COL4A1):c.1612C>G (p.Arg538Gly) single nucleotide variant Hemorrhage, intracerebral, susceptibility to [RCV000033091] Chr13:110187254 [GRCh38]
Chr13:110839601 [GRCh37]
Chr13:13q34
risk factor
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247361]|not provided [RCV002247360] Chr13:110170583 [GRCh38]
Chr13:110822930 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247362]|not provided [RCV003226898] Chr13:110179370 [GRCh38]
Chr13:110831717 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247363] Chr13:110187181 [GRCh38]
Chr13:110839528 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247364] Chr13:110307027 [GRCh38]
Chr13:110959374 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247365] Chr13:110174463 [GRCh38]
Chr13:110826810 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247366] Chr13:110162425 [GRCh38]
Chr13:110814772 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018961] Chr13:110192257 [GRCh38]
Chr13:110844604 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018962] Chr13:110187311 [GRCh38]
Chr13:110839658 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018963] Chr13:110187283 [GRCh38]
Chr13:110839630 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247367]|Developmental cataract [RCV001775002] Chr13:110181326 [GRCh38]
Chr13:110833673 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247368] Chr13:110155300 [GRCh38]
Chr13:110807647 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018966] Chr13:110192258 [GRCh38]
Chr13:110844605 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018967]|Retinal arterial tortuosity [RCV000170340] Chr13:110192222 [GRCh38]
Chr13:110844569 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu) indel Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018968] Chr13:110187292..110187293 [GRCh38]
Chr13:110839639..110839640 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala) single nucleotide variant not provided [RCV000722466] Chr13:110210041 [GRCh38]
Chr13:110862388 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.6(COL4A1):c.*35C>A single nucleotide variant Microangiopathy and leukoencephalopathy, pontine, autosomal dominant [RCV000850144] Chr13:110150328 [GRCh38]
Chr13:110802675 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.*32G>T single nucleotide variant Microangiopathy and leukoencephalopathy, pontine, autosomal dominant [RCV000850146]|not provided [RCV002536170] Chr13:110150331 [GRCh38]
Chr13:110802678 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.3031G>T (p.Gly1011Ter) single nucleotide variant not provided [RCV000722673] Chr13:110176451 [GRCh38]
Chr13:110828798 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.6(COL4A1):c.1052dup (p.Pro352fs) duplication not provided [RCV000520081] Chr13:110201469..110201470 [GRCh38]
Chr13:110853816..110853817 [GRCh37]
Chr13:13q34
likely pathogenic
NM_001845.6(COL4A1):c.3142G>A (p.Glu1048Lys) single nucleotide variant not provided [RCV001526680] Chr13:110175274 [GRCh38]
Chr13:110827621 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.6(COL4A1):c.4996A>G (p.Met1666Val) single nucleotide variant not provided [RCV000522617] Chr13:110150377 [GRCh38]
Chr13:110802724 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.6(COL4A1):c.1085-2A>G single nucleotide variant not provided [RCV000578656] Chr13:110200891 [GRCh38]
Chr13:110853238 [GRCh37]
Chr13:13q34
likely pathogenic|uncertain significance
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV002476039]|not provided [RCV001851434]|not specified [RCV000517961] Chr13:110182995 [GRCh38]
Chr13:110835342 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.5(COL4A1):c.4928+411A>T single nucleotide variant Lung cancer [RCV000097732] Chr13:110151923 [GRCh38]
Chr13:110804270 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.5(COL4A1):c.4641-239C>A single nucleotide variant Lung cancer [RCV000097733] Chr13:110155636 [GRCh38]
Chr13:110807983 [GRCh37]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000050922] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 copy number loss See cases [RCV000050540] Chr13:108743171..114327173 [GRCh38]
Chr13:109395519..115085141 [GRCh37]
Chr13:108193520..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 copy number loss See cases [RCV000051448] Chr13:104461586..114327173 [GRCh38]
Chr13:105113936..115085141 [GRCh37]
Chr13:103911937..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 copy number loss See cases [RCV000051449] Chr13:104698508..114327173 [GRCh38]
Chr13:105350859..115085141 [GRCh37]
Chr13:104148860..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 copy number loss See cases [RCV000051450] Chr13:105571072..114327314 [GRCh38]
Chr13:106223421..115085141 [GRCh37]
Chr13:105021422..114110891 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1 copy number loss See cases [RCV000051451] Chr13:106043720..110366226 [GRCh38]
Chr13:106696069..111018573 [GRCh37]
Chr13:105494070..109816574 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 copy number loss See cases [RCV000051452] Chr13:107168805..114327314 [GRCh38]
Chr13:107821153..115085141 [GRCh37]
Chr13:106619154..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 copy number loss See cases [RCV000051180] Chr13:106157165..114327173 [GRCh38]
Chr13:106809514..115085141 [GRCh37]
Chr13:105607515..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|See cases [RCV000053797] Chr13:109162657..114327314 [GRCh38]
Chr13:109815005..115085141 [GRCh37]
Chr13:108613006..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
NM_001845.6(COL4A1):c.3285C>T (p.Ser1095=) single nucleotide variant not provided [RCV000885826]|not specified [RCV000517149] Chr13:110174663 [GRCh38]
Chr13:110827010 [GRCh37]
Chr13:109625011 [NCBI36]
Chr13:13q34
likely benign|not provided
NM_001845.5(COL4A1):c.2550C>T (p.Leu850=) single nucleotide variant Malignant melanoma [RCV000070286] Chr13:110178140 [GRCh38]
Chr13:110830487 [GRCh37]
Chr13:109628488 [NCBI36]
Chr13:13q34
not provided
NM_001845.6(COL4A1):c.2426C>T (p.Pro809Leu) single nucleotide variant not provided [RCV004775184] Chr13:110178955 [GRCh38]
Chr13:110831302 [GRCh37]
Chr13:109629303 [NCBI36]
Chr13:13q34
uncertain significance|not provided
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247500]|not provided [RCV003556166] Chr13:110166277 [GRCh38]
Chr13:110818624 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) single nucleotide variant Abnormal corpus callosum morphology [RCV001391278]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247502]|Cerebral calcification [RCV001030993]|not provided [RCV000398907] Chr13:110183002 [GRCh38]
Chr13:110835349 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000989163]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247544]|Inborn genetic diseases [RCV004019794]|not provided [RCV000710799] Chr13:110179352 [GRCh38]
Chr13:110831699 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247545] Chr13:110179298 [GRCh38]
Chr13:110831645 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247546] Chr13:110152381 [GRCh38]
Chr13:110804728 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247547] Chr13:110181363 [GRCh38]
Chr13:110833710 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.2085del (p.Gly696fs) deletion Brain small vessel disease 1 with or without ocular anomalies [RCV002247542] Chr13:110183003 [GRCh38]
Chr13:110835350 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.2194-1G>A single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247543] Chr13:110179422 [GRCh38]
Chr13:110831769 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000292185]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247586]|Porencephalic cyst [RCV000398021]|not provided [RCV001515214]|not specified [RCV000176641] Chr13:110186467 [GRCh38]
Chr13:110838814 [GRCh37]
Chr13:13q34
benign
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000378889]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247587]|COL4A1-related disorder [RCV004739560]|Chronic kidney disease [RCV001171323]|Optic nerve hypoplasia [RCV000677255]|not provided [RCV000877903]|not specified [RCV000177132] Chr13:110213999 [GRCh38]
Chr13:110866346 [GRCh37]
Chr13:13q34
benign|likely benign|uncertain significance
NM_001845.6(COL4A1):c.234+8C>T single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000318401]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247588]|Porencephalic cyst [RCV000283020]|not provided [RCV001515221]|not specified [RCV000177133] Chr13:110213918 [GRCh38]
Chr13:110866265 [GRCh37]
Chr13:13q34
benign
NM_001845.6(COL4A1):c.*31G>T single nucleotide variant Microangiopathy and leukoencephalopathy, pontine, autosomal dominant [RCV000850145] Chr13:110150332 [GRCh38]
Chr13:110802679 [GRCh37]
Chr13:13q34
pathogenic
NM_001845.6(COL4A1):c.859-8_859del deletion not provided [RCV000722254] Chr13:110205538..110205546 [GRCh38]
Chr13:110857885..110857893 [GRCh37]
Chr13:13q34
uncertain significance
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000296480]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247592]|not provided [RCV000878096]|not specified [RCV000178572] Chr13:110166257 [GRCh38]
Chr13:110818604 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000326846]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247593]|Porencephalic cyst [RCV000269625]|not provided [RCV001511286]|not specified [RCV000178573] Chr13:110166251 [GRCh38]
Chr13:110818598 [GRCh37]
Chr13:13q34
benign
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000288435]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247594]|COL4A1-related disorder [RCV004528950]|not provided [RCV000878045]|not specified [RCV000178599] Chr13:110164956 [GRCh38]
Chr13:110817303 [GRCh37]
Chr13:13q34
benign|likely benign
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000339614]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247596]|not provided [RCV000878321]|not specified [RCV000179830] Chr13:110211917 [GRCh38]
Chr13:110864264 [GRCh37]
Chr13:13q34
benign|likely benign
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000259549]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247583]|Porencephalic cyst [RCV000305275]|not provided [RCV001515223]|not specified [RCV000173263] Chr13:110307009 [GRCh38]
Chr13:110959356 [GRCh37]
Chr13:13q34
benign
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) single nucleotide variant Brain small vessel disease 1 with or without ocular anomalies [RCV002247615]|COL4A1-related disorder [RCV003335188]|Inborn genetic diseases [RCV000190674]|Microangiopathy and leukoencephalopathy, pontine, autosomal dominant [RCV002283465]|not provided [RCV001532731] Chr13:110178196 [GRCh38]
Chr13:110830543 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q34(chr13:109862835-110921746)x3 copy number gain See cases [RCV000136625] Chr13:109862835..110921746 [GRCh38]
Chr13:110515182..111574093 [GRCh37]
Chr13:109313183..110372094 [NCBI36]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 copy number loss See cases [RCV000137684] Chr13:107075477..114340331 [GRCh38]
Chr13:107727825..115085141 [GRCh37]
Chr13:106525826..114123908 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 copy number loss See cases [RCV000137823] Chr13:102883322..114340331 [GRCh38]
Chr13:103535672..115085141 [GRCh37]
Chr13:102333673..114123908 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 copy number gain See cases [RCV000139021] Chr13:95744855..110863818 [GRCh38]
Chr13:96397109..111516165 [GRCh37]
Chr13:95195110..110314166 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 copy number loss See cases [RCV000140449] Chr13:105861075..114342258 [GRCh38]
Chr13:106513424..115107733 [GRCh37]
Chr13:105311425..114125835 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1 copy number loss See cases [RCV000141465] Chr13:107708655..112101112 [GRCh38]
Chr13:108361003..112755426 [GRCh37]
Chr13:107159004..111803427 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3 copy number gain See cases [RCV000143101] Chr13:103914488..110857896 [GRCh38]
Chr13:104566838..111510243 [GRCh37]
Chr13:103364839..110308244 [NCBI36]
Chr13:13q33.1-34
uncertain significance