RFC2 (replication factor C subunit 2) - Rat Genome Database

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Advanced Search (OLGA)
Gene: RFC2 (replication factor C subunit 2) Homo sapiens
Analyze
Symbol: RFC2
Name: replication factor C subunit 2
RGD ID: 1348076
HGNC Page HGNC:9970
Description: Contributes to DNA clamp loader activity and single-stranded DNA helicase activity. Involved in DNA-templated DNA replication and positive regulation of DNA-directed DNA polymerase activity. Part of Ctf18 RFC-like complex and DNA replication factor C complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A1; A1 40 kDa subunit; activator 1 40 kDa subunit; activator 1 subunit 2; MGC3665; replication factor C (activator 1) 2, 40kDa; replication factor C 2; RF-C 40 kDa subunit; RFC40
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100533727  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38774,231,502 - 74,254,399 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl774,231,499 - 74,254,458 (-)EnsemblGRCh38hg38GRCh38
GRCh37773,645,832 - 73,668,729 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36773,283,768 - 73,306,674 (-)NCBINCBI36Build 36hg18NCBI36
Build 34773,090,484 - 73,113,389NCBI
Celera769,125,398 - 69,148,304 (-)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef769,527,267 - 69,550,345 (-)NCBIHuRef
CHM1_1773,790,894 - 73,813,879 (-)NCBICHM1_1
T2T-CHM13v2.0775,433,796 - 75,456,693 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,978,904 - 73,001,860 (-)NCBI
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  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2'-Methylenebis(4-methyl-6-tert-butylphenol)  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antimony(0)  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
chromium atom  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP)
clotrimazole  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
glyphosate  (EXP)
ivermectin  (EXP)
Lasiocarpine  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
monocrotaline  (EXP)
N(4)-hydroxycytidine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nimesulide  (ISO)
nitrates  (ISO)
Nutlin-3  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium dichromate  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
riddelliine  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (EXP)
trovafloxacin  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Abdominal pain  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal circulating lipid concentration  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal dental morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal diencephalon morphology  (IAGP)
Abnormal endocardium morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal gastric mucosa morphology  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal social behavior  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal tubulointerstitial morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of the ankle  (IAGP)
Abnormality of the bladder  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the neck  (IAGP)
Abnormality of the voice  (IAGP)
Adducted thumb  (IAGP)
Anxiety  (IAGP)
Aortic arch aneurysm  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Arterial stenosis  (IAGP)
Arthralgia  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Atrophy/Degeneration involving the corticospinal tracts  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Bicuspid aortic valve  (IAGP)
Bladder diverticulum  (IAGP)
Blepharophimosis  (IAGP)
Blue irides  (IAGP)
Broad forehead  (IAGP)
Cardiomegaly  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral ischemia  (IAGP)
Chiari malformation  (IAGP)
Cholelithiasis  (IAGP)
Chronic otitis media  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Colonic diverticula  (IAGP)
Compulsive behaviors  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Death in early adulthood  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental malocclusion  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Down-sloping shoulders  (IAGP)
Dysarthria  (IAGP)
Dysgraphia  (IAGP)
Dysmetria  (IAGP)
Dysphonia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elfin facies  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive in infancy  (IAGP)
Flat cornea  (IAGP)
Functional abnormality of male internal genitalia  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Gastroesophageal reflux  (IAGP)
Genu valgum  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Hallux valgus  (IAGP)
High forehead  (IAGP)
High hypermetropia  (IAGP)
Hoarse voice  (IAGP)
Hyperacusis  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hyperlordosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypodontia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypoplastic toenails  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased bone mineral density  (IAGP)
Increased nuchal translucency  (IAGP)
Inguinal hernia  (IAGP)
Insomnia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Involuntary movements  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Lacrimation abnormality  (IAGP)
Long philtrum  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Malabsorption  (IAGP)
Megalocornea  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Multiple renal cysts  (IAGP)
Myocardial infarction  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Narrow face  (IAGP)
Nausea and vomiting  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Nevus flammeus  (IAGP)
Nystagmus-induced head nodding  (IAGP)
Obesity  (IAGP)
Open bite  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Overfriendliness  (IAGP)
Overriding aorta  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pelvic kidney  (IAGP)
Peptic ulcer  (IAGP)
Periorbital edema  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Pes planus  (IAGP)
Phonophobia  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Pointed chin  (IAGP)
Polycystic ovaries  (IAGP)
Posterior embryotoxon  (IAGP)
Posteriorly rotated ears  (IAGP)
Precocious puberty  (IAGP)
Prematurely aged appearance  (IAGP)
Proteinuria  (IAGP)
Protruding ear  (IAGP)
Pulmonic stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Rectal prolapse  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Redundant skin  (IAGP)
Renal duplication  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Renovascular hypertension  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Sacral dimple  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Spasticity  (IAGP)
Spina bifida occulta  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Sudden cardiac death  (IAGP)
Supravalvular aortic stenosis  (IAGP)
Synostosis of joints  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick lower lip vermilion  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tremor  (IAGP)
Type II diabetes mellitus  (IAGP)
Umbilical hernia  (IAGP)
Urethral stenosis  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral segmentation defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Replication clamps and clamp loaders. Hedglin M, etal., Cold Spring Harb Perspect Biol. 2013 Apr 1;5(4):a010165. doi: 10.1101/cshperspect.a010165.
3. Mechanisms and functions of DNA mismatch repair. Li GM Cell Res. 2008 Jan;18(1):85-98.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1313560   PMID:7774928   PMID:8093561   PMID:8651315   PMID:8692848   PMID:8812460   PMID:9092549   PMID:9111189   PMID:9121429   PMID:9228079   PMID:9488738   PMID:9751713  
PMID:9822671   PMID:10051561   PMID:10783165   PMID:11003705   PMID:11907025   PMID:12036885   PMID:12171929   PMID:12192049   PMID:12477932   PMID:12766176   PMID:12791985   PMID:12853948  
PMID:12930902   PMID:14605214   PMID:15096576   PMID:15489334   PMID:15635413   PMID:15655353   PMID:16196087   PMID:16413017   PMID:16582606   PMID:17148452   PMID:17314511   PMID:17643375  
PMID:18245774   PMID:18499658   PMID:19237606   PMID:19454010   PMID:19615732   PMID:19640993   PMID:19661379   PMID:20226869   PMID:20467437   PMID:20522537   PMID:20574454   PMID:21145461  
PMID:21549307   PMID:21654808   PMID:21873635   PMID:22863883   PMID:22898364   PMID:22939629   PMID:22990118   PMID:23443559   PMID:24332808   PMID:24711643   PMID:24958773   PMID:24981860  
PMID:25184681   PMID:25693804   PMID:26095369   PMID:26186194   PMID:26300262   PMID:26344197   PMID:26474068   PMID:26496610   PMID:26618866   PMID:26638075   PMID:26687681   PMID:26760575  
PMID:26870752   PMID:27025967   PMID:27248496   PMID:27320910   PMID:27462463   PMID:27634302   PMID:27637333   PMID:28077445   PMID:28192407   PMID:28380382   PMID:28514442   PMID:28515276  
PMID:28986522   PMID:29117863   PMID:29229926   PMID:29467282   PMID:29509190   PMID:29568061   PMID:29802200   PMID:29955894   PMID:29991511   PMID:30415952   PMID:30463901   PMID:30554943  
PMID:30619736   PMID:30686591   PMID:30804502   PMID:30833792   PMID:30884312   PMID:30940648   PMID:30948266   PMID:31010829   PMID:31048545   PMID:31059266   PMID:31091453   PMID:31180492  
PMID:31527615   PMID:31586073   PMID:31665637   PMID:31753913   PMID:31822558   PMID:31839598   PMID:32129710   PMID:32296183   PMID:32344865   PMID:32416067   PMID:32687490   PMID:32707033  
PMID:32780723   PMID:32786267   PMID:32807901   PMID:33306668   PMID:33536335   PMID:33545068   PMID:33567341   PMID:33742100   PMID:33820915   PMID:33961781   PMID:34022962   PMID:34074749  
PMID:34079125   PMID:34189442   PMID:34237211   PMID:34373451   PMID:34732716   PMID:35032548   PMID:35182466   PMID:35210438   PMID:35235311   PMID:35241646   PMID:35253629   PMID:35256949  
PMID:35271311   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35791074   PMID:35831314   PMID:35850772   PMID:35915203   PMID:35944360   PMID:36089195   PMID:36114006   PMID:36215168  
PMID:36244648   PMID:36273042   PMID:36398662   PMID:36526897   PMID:36724073   PMID:37071682   PMID:37167062   PMID:37314216   PMID:37317656   PMID:37448957   PMID:37609425   PMID:37689310  
PMID:37821801   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
RFC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38774,231,502 - 74,254,399 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl774,231,499 - 74,254,458 (-)EnsemblGRCh38hg38GRCh38
GRCh37773,645,832 - 73,668,729 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36773,283,768 - 73,306,674 (-)NCBINCBI36Build 36hg18NCBI36
Build 34773,090,484 - 73,113,389NCBI
Celera769,125,398 - 69,148,304 (-)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef769,527,267 - 69,550,345 (-)NCBIHuRef
CHM1_1773,790,894 - 73,813,879 (-)NCBICHM1_1
T2T-CHM13v2.0775,433,796 - 75,456,693 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,978,904 - 73,001,860 (-)NCBI
Rfc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395134,611,544 - 134,627,182 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5134,610,220 - 134,630,659 (+)EnsemblGRCm39 Ensembl
GRCm385134,582,690 - 134,598,328 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5134,581,366 - 134,601,805 (+)EnsemblGRCm38mm10GRCm38
MGSCv375135,058,560 - 135,074,198 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365134,867,317 - 134,882,955 (+)NCBIMGSCv36mm8
Celera5131,590,738 - 131,606,377 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map574.68NCBI
Rfc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81227,756,920 - 27,770,049 (-)NCBIGRCr8
GRCr8 Ensembl1227,756,922 - 27,770,025 (-)EnsemblGRCr8 Ensembl
mRatBN7.21222,120,449 - 22,133,576 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1222,120,010 - 22,133,557 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1223,263,632 - 23,276,828 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01223,874,713 - 23,887,909 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01222,941,263 - 22,954,609 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01225,130,375 - 25,143,480 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1225,130,377 - 25,143,480 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01227,130,769 - 27,143,874 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41223,185,550 - 23,198,655 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1223,884,376 - 23,897,525 (-)NCBICelera
RGSC_v3.11223,046,380 - 23,053,601 (-)NCBI
Cytogenetic Map12q12NCBI
Rfc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545613,659,157 - 13,671,181 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545613,659,122 - 13,671,405 (+)NCBIChiLan1.0ChiLan1.0
RFC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2690,644,647 - 90,667,307 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17138,909,280 - 138,931,940 (+)NCBINHGRI_mPanPan1
PanPan1.1781,378,937 - 81,401,937 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl781,378,937 - 81,401,937 (-)Ensemblpanpan1.1panPan2
RFC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.166,119,203 - 6,159,293 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl66,119,164 - 6,160,886 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha67,819,017 - 7,857,620 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.065,935,190 - 5,973,800 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl65,951,322 - 5,974,387 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.165,926,219 - 5,964,926 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.065,873,708 - 5,912,408 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.066,037,183 - 6,075,802 (+)NCBIUU_Cfam_GSD_1.0
Rfc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344130,756,864 - 130,772,906 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365433,263,878 - 3,279,667 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365433,263,661 - 3,273,178 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RFC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl311,373,492 - 11,392,695 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1311,373,489 - 11,392,690 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2311,056,709 - 11,068,698 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RFC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1288,818,606 - 8,846,929 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl288,818,650 - 8,847,865 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660707,734,642 - 7,758,689 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rfc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474013,737,310 - 13,748,821 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474013,737,225 - 13,748,876 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RFC2
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.23(chr7:74177663-74718954)x1 copy number loss See cases [RCV000050812] Chr7:74177663..74718954 [GRCh38]
Chr7:73229929..73771209 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 copy number gain See cases [RCV000050379] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 copy number loss See cases [RCV000050382] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 copy number loss See cases [RCV000051134] Chr7:73352304..74924037 [GRCh38]
Chr7:72766313..74339044 [GRCh37]
Chr7:72404249..73976980 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1 copy number loss See cases [RCV000050996] Chr7:72930548..74869255 [GRCh38]
Chr7:72401086..74285345 [GRCh37]
Chr7:72039022..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1 copy number loss See cases [RCV000050999] Chr7:73352304..74869255 [GRCh38]
Chr7:72766313..74285345 [GRCh37]
Chr7:72404249..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3 copy number gain See cases [RCV000051965] Chr7:72649515..75361855 [GRCh38]
Chr7:72196405..74991125 [GRCh37]
Chr7:71752436..74829061 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3 copy number gain See cases [RCV000051966] Chr7:72768821..74869255 [GRCh38]
Chr7:72233835..74285345 [GRCh37]
Chr7:71871771..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 copy number gain See cases [RCV000051967] Chr7:73280574..74725240 [GRCh38]
Chr7:72665462..74139573 [GRCh37]
Chr7:72303398..73777509 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 copy number gain See cases [RCV000051986] Chr7:73280574..74725240 [GRCh38]
Chr7:72679397..74139573 [GRCh37]
Chr7:72317333..73777509 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3 copy number gain See cases [RCV000051989] Chr7:73280574..74839100 [GRCh38]
Chr7:72683244..74267189 [GRCh37]
Chr7:72321180..73905125 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3 copy number gain See cases [RCV000051990] Chr7:73312575..74723034 [GRCh38]
Chr7:72726571..74137354 [GRCh37]
Chr7:72364507..73775290 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74924178)x3 copy number gain See cases [RCV000051991] Chr7:73352104..74924178 [GRCh38]
Chr7:72766113..74339185 [GRCh37]
Chr7:72404049..73977121 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1 copy number loss See cases [RCV000053133] Chr7:73096542..74727989 [GRCh38]
Chr7:72507129..74142327 [GRCh37]
Chr7:72145065..73780263 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1 copy number loss See cases [RCV000053143] Chr7:73280574..74723034 [GRCh38]
Chr7:72681397..74137354 [GRCh37]
Chr7:72319333..73775290 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1 copy number loss See cases [RCV000053144] Chr7:73286412..74723034 [GRCh38]
Chr7:72700414..74137354 [GRCh37]
Chr7:72338350..73775290 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3 copy number gain See cases [RCV000053146] Chr7:73286412..74725240 [GRCh38]
Chr7:72700414..74139573 [GRCh37]
Chr7:72338350..73777509 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1 copy number loss See cases [RCV000053147] Chr7:73286412..74725240 [GRCh38]
Chr7:72700414..74139573 [GRCh37]
Chr7:72338350..73777509 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1 copy number loss See cases [RCV000053150] Chr7:73286412..74707848 [GRCh38]
Chr7:72700414..74122179 [GRCh37]
Chr7:72338350..73760115 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3 copy number gain See cases [RCV000053151] Chr7:73352104..74719154 [GRCh38]
Chr7:72766113..74133473 [GRCh37]
Chr7:72404049..73771409 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1 copy number loss See cases [RCV000053152] Chr7:73352104..74719154 [GRCh38]
Chr7:72766113..74133473 [GRCh37]
Chr7:72404049..73771409 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:74163876-74593260)x3 copy number gain See cases [RCV000053462] Chr7:74163876..74593260 [GRCh38]
Chr7:73216142..73645525 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1 copy number loss See cases [RCV000054121] Chr7:74176025..75361855 [GRCh38]
Chr7:73992744..74991125 [GRCh37]
Chr7:73228291..74829061 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 copy number loss See cases [RCV000133638] Chr7:73352304..76722261 [GRCh38]
Chr7:72766313..76351578 [GRCh37]
Chr7:72404249..76189514 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1 copy number loss See cases [RCV000134329] Chr7:73304255..74718954 [GRCh38]
Chr7:72718252..74133273 [GRCh37]
Chr7:72356188..73771209 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 copy number gain See cases [RCV000135712] Chr7:73040501..75255046 [GRCh38]
Chr7:74285295..76351578 [GRCh37]
Chr7:73923231..76189514 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3 copy number gain See cases [RCV000136287] Chr7:72938064..74779028 [GRCh38]
Chr7:72408602..74193374 [GRCh37]
Chr7:72046538..73831310 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1 copy number loss See cases [RCV000136391] Chr7:73280574..74924007 [GRCh38]
Chr7:72636006..74339014 [GRCh37]
Chr7:72273942..73976950 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1 copy number loss See cases [RCV000136014] Chr7:73352303..74779051 [GRCh38]
Chr7:72766312..74193397 [GRCh37]
Chr7:72404248..73831333 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3 copy number gain See cases [RCV000136042] Chr7:73352303..74719008 [GRCh38]
Chr7:72766312..74133327 [GRCh37]
Chr7:72404248..73771263 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1 copy number loss See cases [RCV000136046] Chr7:73352303..74719008 [GRCh38]
Chr7:72766312..74133327 [GRCh37]
Chr7:72404248..73771263 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1 copy number loss See cases [RCV000136076] Chr7:73352303..74924023 [GRCh38]
Chr7:72766312..74339030 [GRCh37]
Chr7:72404248..73976966 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:74047652-74924037)x1 copy number loss See cases [RCV000136944] Chr7:74047652..74924037 [GRCh38]
Chr7:73099918..73976980 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1 copy number loss See cases [RCV000136793] Chr7:73312582..74725057 [GRCh38]
Chr7:72726578..74139390 [GRCh37]
Chr7:72364514..73777326 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3 copy number gain See cases [RCV000138102] Chr7:73192369..74779057 [GRCh38]
Chr7:72606409..74193403 [GRCh37]
Chr7:72244345..73831339 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1 copy number loss See cases [RCV000138103] Chr7:73192369..74779057 [GRCh38]
Chr7:72606409..74193403 [GRCh37]
Chr7:72244345..73831339 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 copy number gain See cases [RCV000137731] Chr7:73040501..75255046 [GRCh38]
Chr7:72635638..74904285 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1 copy number loss See cases [RCV000138355] Chr7:73286412..74727989 [GRCh38]
Chr7:72700414..74142327 [GRCh37]
Chr7:72338350..73780263 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3 copy number gain See cases [RCV000138356] Chr7:73280574..74727989 [GRCh38]
Chr7:72685734..74142327 [GRCh37]
Chr7:72323670..73780263 [NCBI36]
Chr7:7q11.23		 pathogenic|conflicting data from submitters
GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1 copy number loss See cases [RCV000138357] Chr7:73271690..74727989 [GRCh38]
Chr7:72685734..74142327 [GRCh37]
Chr7:72323670..73780263 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1 copy number loss See cases [RCV000139190] Chr7:73192369..74869255 [GRCh38]
Chr7:72606409..74285345 [GRCh37]
Chr7:72244345..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3 copy number gain See cases [RCV000139121] Chr7:73280574..74779057 [GRCh38]
Chr7:72663962..74193403 [GRCh37]
Chr7:72301898..73831339 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1 copy number loss See cases [RCV000139797] Chr7:73286412..74869255 [GRCh38]
Chr7:72700414..74285345 [GRCh37]
Chr7:72338350..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1 copy number loss See cases [RCV000140662] Chr7:73286412..74779057 [GRCh38]
Chr7:72700414..74193403 [GRCh37]
Chr7:72338350..73831339 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3 copy number gain See cases [RCV000140718] Chr7:73192369..74883978 [GRCh38]
Chr7:72606409..74300084 [GRCh37]
Chr7:72244345..73938020 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3 copy number gain See cases [RCV000141703] Chr7:73175475..74740268 [GRCh38]
Chr7:72589515..74154603 [GRCh37]
Chr7:72227451..73792539 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3 copy number gain See cases [RCV000142341] Chr7:73286125..74732517 [GRCh38]
Chr7:72700127..74146858 [GRCh37]
Chr7:72338063..73784794 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1 copy number loss See cases [RCV000142414] Chr7:73280574..74789341 [GRCh38]
Chr7:72637824..74203685 [GRCh37]
Chr7:72275760..73841621 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 copy number gain See cases [RCV000142242] Chr7:62977085..75415352 [GRCh38]
Chr7:62437463..75044630 [GRCh37]
Chr7:62074898..74882566 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1 copy number loss See cases [RCV000142230] Chr7:73286508..74727852 [GRCh38]
Chr7:72700510..74142190 [GRCh37]
Chr7:72338446..73780126 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1 copy number loss See cases [RCV000142156] Chr7:73280574..74727918 [GRCh38]
Chr7:72650120..74142256 [GRCh37]
Chr7:72288056..73780192 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1 copy number loss See cases [RCV000142159] Chr7:73286522..74727156 [GRCh38]
Chr7:72700524..74141494 [GRCh37]
Chr7:72338460..73779430 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1 copy number loss See cases [RCV000142891] Chr7:73286412..74758583 [GRCh38]
Chr7:72700414..74172913 [GRCh37]
Chr7:72338350..73810849 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3 copy number gain See cases [RCV000142690] Chr7:73352304..75065728 [GRCh38]
Chr7:72766313..74481540 [GRCh37]
Chr7:72404249..74119476 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 copy number loss See cases [RCV000142528] Chr7:62736364..75432710 [GRCh38]
Chr7:62196742..75061986 [GRCh37]
Chr7:61834177..74899922 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11		 likely pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3 copy number gain See cases [RCV000143390] Chr7:73280574..74728722 [GRCh38]
Chr7:72677301..74143060 [GRCh37]
Chr7:72315237..73780996 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 copy number gain See cases [RCV000148080] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 copy number loss See cases [RCV000148081] Chr7:73352304..74924037 [GRCh38]
Chr7:72766313..74339044 [GRCh37]
Chr7:72404249..73976980 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1 copy number loss See cases [RCV000143632] Chr7:73304280..74727852 [GRCh38]
Chr7:72718277..74142190 [GRCh37]
Chr7:72356213..73780126 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:74068087-75068321)x3 copy number gain See cases [RCV000141316] Chr7:74068087..75068321 [GRCh38]
Chr7:73482417..74481540 [GRCh37]
Chr7:73120353..74119476 [NCBI36]
Chr7:7q11.23		 likely benign
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 copy number loss See cases [RCV000148142] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718252-74133332)x1 copy number loss See cases [RCV000239835] Chr7:72718252..74133332 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72708237-74339044)x1 copy number loss See cases [RCV000239823] Chr7:72708237..74339044 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74217390)x1 copy number loss See cases [RCV000258813] Chr7:72722981..74217390 [GRCh37]
Chr7:7q11.23		 pathogenic|likely pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x1 copy number loss See cases [RCV000207450] Chr7:72722981..74141840 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000225382] Chr7:72718278..74140708 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele duplication Intestinal malrotation [RCV000754986] Chr7:72634873..74142327 [GRCh37]
Chr7:7q11.23		 likely pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3 copy number gain See cases [RCV000240527] Chr7:71968212..74133332 [GRCh37]
Chr7:7q11.22-11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1 copy number loss See cases [RCV000240532] Chr7:73591993..75914797 [GRCh37]
Chr7:7q11.23		 likely pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7q11.23(chr7:72713253-74142256)x1 copy number loss See cases [RCV000449356] Chr7:72713253..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141673)x1 copy number loss See cases [RCV000449372] Chr7:72718277..74141673 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700127-74143240)x3 copy number gain See cases [RCV000446793] Chr7:72700127..74143240 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72713253-74143030)x1 copy number loss See cases [RCV000447530] Chr7:72713253..74143030 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1 copy number loss See cases [RCV000447273] Chr7:72718277..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72708237-74133273)x1 copy number loss See cases [RCV000446832] Chr7:72708237..74133273 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-74142190)x3 copy number gain See cases [RCV000446236] Chr7:72686958..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1 copy number loss See cases [RCV000447620] Chr7:72718277..74141603 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74146948)x1 copy number loss See cases [RCV000446172] Chr7:72718277..74146948 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142215)x1 copy number loss See cases [RCV000447454] Chr7:72718277..74142215 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72692112-74141746)x3 copy number gain See cases [RCV000445755] Chr7:72692112..74141746 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74142190)x1 copy number loss See cases [RCV000447774] Chr7:72700524..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141784)x1 copy number loss See cases [RCV000448046] Chr7:72718277..74141784 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141746)x1 copy number loss See cases [RCV000448666] Chr7:72718123..74141746 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72472922-74259176)x3 copy number gain See cases [RCV000448344] Chr7:72472922..74259176 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74142256)x3 copy number gain See cases [RCV000512105] Chr7:72700524..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72643631-74142190)x1 copy number loss See cases [RCV000512130] Chr7:72643631..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3 copy number gain See cases [RCV000512048] Chr7:72677301..74143240 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1 copy number loss See cases [RCV000510243] Chr7:72691242..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1 copy number loss See cases [RCV000510195] Chr7:72718277..74287433 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74259899)x1 copy number loss See cases [RCV000510198] Chr7:72718277..74259899 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72701018-74141493)x1 copy number loss See cases [RCV000510144] Chr7:72701018..74141493 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-73898515)x1 copy number loss See cases [RCV000511510] Chr7:72718277..73898515 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74146858)x1 copy number loss See cases [RCV000511528] Chr7:72718277..74146858 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72692112-74154497)x3 copy number gain See cases [RCV000511487] Chr7:72692112..74154497 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1 copy number loss See cases [RCV000511955] Chr7:72718277..74141494 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72677173-74143140)x3 copy number gain See cases [RCV000510884] Chr7:72677173..74143140 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1 copy number loss See cases [RCV000511254] Chr7:72718277..74141603 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74165401)x3 copy number gain See cases [RCV000510938] Chr7:72589515..74165401 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 copy number loss See cases [RCV000510782] Chr7:72456604..76007380 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72772522-74133319) copy number loss Short stature [RCV000626538] Chr7:72772522..74133319 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72766313-74133332) copy number loss Global developmental delay [RCV000626537] Chr7:72766313..74133332 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141746)x1 copy number loss See cases [RCV000512220] Chr7:72718277..74141746 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1 copy number loss See cases [RCV000512310] Chr7:72536980..74629034 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74197846)x3 copy number gain See cases [RCV000512328] Chr7:72577021..74197846 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72659674-74143240)x3 copy number gain See cases [RCV000512332] Chr7:72659674..74143240 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3		 uncertain significance
GRCh37/hg19 7q11.23(chr7:73645941-74147166)x3 copy number gain not provided [RCV000682850] Chr7:73645941..74147166 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3 copy number gain not provided [RCV000682887] Chr7:72577021..74147166 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1 copy number loss not provided [RCV000682892] Chr7:72608514..74386749 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3 copy number gain not provided [RCV000682898] Chr7:72577021..74859638 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3 copy number gain not provided [RCV000682883] Chr7:72700524..74069858 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3 copy number gain not provided [RCV000682886] Chr7:72701018..74143240 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3 copy number gain not provided [RCV000682888] Chr7:72576872..74175429 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1 copy number loss not provided [RCV000682895] Chr7:72612042..74574641 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1 copy number loss not provided [RCV000682885] Chr7:72718123..74141784 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1 copy number loss not provided [RCV000682894] Chr7:72589515..74386749 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1 copy number loss See cases [RCV002285079] Chr7:72718277..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7q11.23(chr7:72305671-74196360)x1 copy number loss not provided [RCV000746789] Chr7:72305671..74196360 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74200092)x1 copy number loss not provided [RCV000746794] Chr7:72722981..74200092 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72743983-74145064)x3 copy number gain not provided [RCV000746795] Chr7:72743983..74145064 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele duplication Schizophrenia [RCV000754333] Chr7:73312644..74726596 [GRCh38]
Chr7:7q11.23		 pathogenic
Single allele duplication Autism [RCV000754334] Chr7:73323103..74726596 [GRCh38]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72650265-74138603)x1 copy number loss not provided [RCV000746791] Chr7:72650265..74138603 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72653306-74134911)x1 copy number loss not provided [RCV000746792] Chr7:72653306..74134911 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72719386-74218536)x1 copy number loss not provided [RCV000746793] Chr7:72719386..74218536 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72650106-74138603)x1 copy number loss not provided [RCV000746790] Chr7:72650106..74138603 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_181471.3(RFC2):c.619G>A (p.Glu207Lys) single nucleotide variant not provided [RCV000977375] Chr7:74240012 [GRCh38]
Chr7:73654342 [GRCh37]
Chr7:7q11.23		 benign
NM_181471.3(RFC2):c.6G>A (p.Glu2=) single nucleotide variant not provided [RCV000902701] Chr7:74254378 [GRCh38]
Chr7:73668708 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.1052C>T (p.Pro351Leu) single nucleotide variant not provided [RCV000904188] Chr7:74232119 [GRCh38]
Chr7:73646449 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.184-4G>A single nucleotide variant not provided [RCV000972766] Chr7:74249784 [GRCh38]
Chr7:73664114 [GRCh37]
Chr7:7q11.23		 benign
NM_181471.3(RFC2):c.106C>T (p.Leu36=) single nucleotide variant not provided [RCV000928604] Chr7:74254278 [GRCh38]
Chr7:73668608 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.601A>C (p.Arg201=) single nucleotide variant not provided [RCV000965754] Chr7:74240030 [GRCh38]
Chr7:73654360 [GRCh37]
Chr7:7q11.23		 benign
NM_181471.3(RFC2):c.435-8C>T single nucleotide variant not provided [RCV000926881] Chr7:74243254 [GRCh38]
Chr7:73657584 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.444C>T (p.Asp148=) single nucleotide variant not provided [RCV000915172] Chr7:74243237 [GRCh38]
Chr7:73657567 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.585C>T (p.Asp195=) single nucleotide variant not provided [RCV000926317] Chr7:74240046 [GRCh38]
Chr7:73654376 [GRCh37]
Chr7:7q11.23		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72744494-74339044) copy number loss Williams syndrome [RCV000767637] Chr7:72744494..74339044 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72744494-76038818) copy number loss Williams syndrome [RCV000767638] Chr7:72744494..76038818 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72772522-74133319) copy number loss Williams syndrome [RCV000767640] Chr7:72772522..74133319 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion not provided [RCV000768460] Chr7:72682338..74141250 [GRCh37]
Chr7:7q11.23		 likely pathogenic
GRCh37/hg19 7q11.23(chr7:72721449-73959106) copy number loss Williams syndrome [RCV000767559] Chr7:72721449..73959106 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_181471.3(RFC2):c.1032G>A (p.Leu344=) single nucleotide variant not provided [RCV000880791] Chr7:74232139 [GRCh38]
Chr7:73646469 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.695C>T (p.Ala232Val) single nucleotide variant not provided [RCV000896807] Chr7:74238987 [GRCh38]
Chr7:73653317 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.759+8C>T single nucleotide variant not provided [RCV000973403] Chr7:74238915 [GRCh38]
Chr7:73653245 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23(chr7:72700996-74142190) copy number loss Williams syndrome [RCV000767639] Chr7:72700996..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787465] Chr7:72699382..74142329 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1 copy number loss not provided [RCV001005967] Chr7:72621722..76007380 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787466] Chr7:72726590..74142329 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787457] Chr7:72364526..73780265 [GRCh37]
Chr7:7q11.23		 likely pathogenic
Single allele deletion Williams syndrome [RCV001172267] Chr7:72657228..74160300 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_181471.3(RFC2):c.332+9T>C single nucleotide variant not provided [RCV000933555] Chr7:74249003 [GRCh38]
Chr7:73663333 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.387T>A (p.Thr129=) single nucleotide variant not provided [RCV000895908] Chr7:74246709 [GRCh38]
Chr7:73661039 [GRCh37]
Chr7:7q11.23		 benign
NM_181471.3(RFC2):c.828C>T (p.Asp276=) single nucleotide variant not provided [RCV000896128] Chr7:74237374 [GRCh38]
Chr7:73651704 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.99C>T (p.His33=) single nucleotide variant not provided [RCV000888107] Chr7:74254285 [GRCh38]
Chr7:73668615 [GRCh37]
Chr7:7q11.23		 benign
NM_181471.3(RFC2):c.15C>A (p.Ala5=) single nucleotide variant not provided [RCV000938577] Chr7:74254369 [GRCh38]
Chr7:73668699 [GRCh37]
Chr7:7q11.23		 benign
NM_181471.3(RFC2):c.180A>G (p.Leu60=) single nucleotide variant not provided [RCV000916660] Chr7:74252432 [GRCh38]
Chr7:73666762 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.240C>T (p.Thr80=) single nucleotide variant not provided [RCV000913816] Chr7:74249104 [GRCh38]
Chr7:73663434 [GRCh37]
Chr7:7q11.23		 likely benign
GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1 copy number loss not provided [RCV002472631] Chr7:72654782..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1 copy number loss not provided [RCV002472618] Chr7:72643632..74143060 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3 copy number gain See cases [RCV001194543] Chr7:72722981..74141840 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1 copy number loss not provided [RCV001260005] Chr7:68977230..73939510 [GRCh37]
Chr7:7q11.22-11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72921550-74145628) copy number loss Williams syndrome [RCV002280680] Chr7:72921550..74145628 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72701084-74142190) copy number loss Williams syndrome [RCV002280683] Chr7:72701084..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700127-74142190) copy number loss Williams syndrome [RCV002280684] Chr7:72700127..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3 copy number gain not provided [RCV001258797] Chr7:72659674..74164894 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1 copy number loss not provided [RCV001258798] Chr7:72403117..76709600 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1 copy number loss not provided [RCV001270666] Chr7:72717369..74142224 [GRCh37]
Chr7:7q11.23		 pathogenic
NC_000007.14:g.73304277_74727414del deletion Williams syndrome [RCV003318489] Chr7:73304277..74727414 [GRCh38]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3 copy number gain Distal 7q11.23 microdeletion syndrome [RCV001801209] Chr7:72717345..74133310 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74142190) copy number loss Williams syndrome [RCV002280674] Chr7:72718123..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74629034) copy number loss Williams syndrome [RCV002280676] Chr7:72589515..74629034 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72645013-74142190) copy number loss Williams syndrome [RCV002280678] Chr7:72645013..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142256) copy number gain 7q11.23 microduplication syndrome [RCV003320440] Chr7:72718277..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72717395-74173168) copy number loss Williams syndrome [RCV003236746] Chr7:72717395..74173168 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3 copy number gain 7q11.23 microduplication syndrome [RCV002279739] Chr7:72766313..74042787 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141784) copy number loss Williams syndrome [RCV002280679] Chr7:72718123..74141784 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700996-74142256) copy number loss Williams syndrome [RCV002280681] Chr7:72700996..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72589195-74225562) copy number loss Williams syndrome [RCV002280675] Chr7:72589195..74225562 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700942-74142190) copy number loss Williams syndrome [RCV002280682] Chr7:72700942..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-74155067) copy number gain 7q11.23 microduplication syndrome [RCV002280765] Chr7:72686958..74155067 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74143060)x1 copy number loss not provided [RCV002474679] Chr7:72718278..74143060 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74143240)x1 copy number loss not provided [RCV002473955] Chr7:72718278..74143240 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:73666853-73689952)x1 copy number loss not provided [RCV002474884] Chr7:73666853..73689952 [GRCh37]
Chr7:7q11.23		 uncertain significance
NC_000007.14:g.(?_73303398)_(74735532_?)del deletion Williams syndrome [RCV004586468] Chr7:73303398..74735532 [GRCh38]
Chr7:7q11.23		 likely pathogenic
Single allele deletion Williams syndrome [RCV003234736] Chr7:73214501..74773500 [GRCh38]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1 copy number loss not provided [RCV002472548] Chr7:72718278..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_181471.3(RFC2):c.780A>C (p.Pro260=) single nucleotide variant not provided [RCV002512335] Chr7:74237422 [GRCh38]
Chr7:73651752 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.617T>C (p.Ile206Thr) single nucleotide variant not specified [RCV004099130] Chr7:74240014 [GRCh38]
Chr7:73654344 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.980T>G (p.Ile327Arg) single nucleotide variant not specified [RCV004161624] Chr7:74232191 [GRCh38]
Chr7:73646521 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.67G>T (p.Ala23Ser) single nucleotide variant not specified [RCV004128696] Chr7:74254317 [GRCh38]
Chr7:73668647 [GRCh37]
Chr7:7q11.23		 likely benign
NM_181471.3(RFC2):c.973A>G (p.Met325Val) single nucleotide variant not specified [RCV004091047] Chr7:74232198 [GRCh38]
Chr7:73646528 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.343G>A (p.Val115Ile) single nucleotide variant not specified [RCV004182697] Chr7:74246753 [GRCh38]
Chr7:73661083 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.646G>A (p.Asp216Asn) single nucleotide variant not specified [RCV004100618] Chr7:74239985 [GRCh38]
Chr7:73654315 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.184G>A (p.Val62Ile) single nucleotide variant not specified [RCV004145019] Chr7:74249780 [GRCh38]
Chr7:73664110 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.869A>T (p.Tyr290Phe) single nucleotide variant not specified [RCV004102262] Chr7:74235617 [GRCh38]
Chr7:73649947 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.65C>T (p.Pro22Leu) single nucleotide variant not specified [RCV004076745] Chr7:74254319 [GRCh38]
Chr7:73668649 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.572C>T (p.Thr191Ile) single nucleotide variant not specified [RCV004254700] Chr7:74240059 [GRCh38]
Chr7:73654389 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.23(chr7:73229597-74727852) copy number loss Williams syndrome [RCV003223593] Chr7:73229597..74727852 [GRCh38]
Chr7:7q11.23		 pathogenic
NM_181471.3(RFC2):c.586G>A (p.Ala196Thr) single nucleotide variant not provided [RCV003423618] Chr7:74240045 [GRCh38]
Chr7:73654375 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.758A>T (p.Lys253Met) single nucleotide variant not specified [RCV004359830] Chr7:74238924 [GRCh38]
Chr7:73653254 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.47A>G (p.Gln16Arg) single nucleotide variant not specified [RCV004341705] Chr7:74254337 [GRCh38]
Chr7:73668667 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:73142034-73690195)x1 copy number loss not provided [RCV003482965] Chr7:73142034..73690195 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3 copy number gain not provided [RCV003484684] Chr7:72547476..74263704 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_181471.3(RFC2):c.226-3C>T single nucleotide variant not provided [RCV003433884] Chr7:74249121 [GRCh38]
Chr7:73663451 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3 copy number gain not specified [RCV003986715] Chr7:66776724..74629034 [GRCh37]
Chr7:7q11.21-11.23		 pathogenic
NM_181471.3(RFC2):c.436A>G (p.Met146Val) single nucleotide variant not specified [RCV004446249] Chr7:74243245 [GRCh38]
Chr7:73657575 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.565C>T (p.Arg189Trp) single nucleotide variant not specified [RCV004446250] Chr7:74240066 [GRCh38]
Chr7:73654396 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.671C>T (p.Thr224Met) single nucleotide variant not specified [RCV004446252] Chr7:74239960 [GRCh38]
Chr7:73654290 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3 copy number gain 7q11.23 microduplication syndrome [RCV004556973] Chr7:73247356..74727974 [GRCh38]
Chr7:7q11.23		 pathogenic
NM_181471.3(RFC2):c.44C>T (p.Ala15Val) single nucleotide variant not specified [RCV004658281] Chr7:74254340 [GRCh38]
Chr7:73668670 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.34G>A (p.Glu12Lys) single nucleotide variant not specified [RCV004671874] Chr7:74254350 [GRCh38]
Chr7:73668680 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.824T>C (p.Ile275Thr) single nucleotide variant not specified [RCV004658279] Chr7:74237378 [GRCh38]
Chr7:73651708 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.35A>G (p.Glu12Gly) single nucleotide variant not specified [RCV004863182] Chr7:74254349 [GRCh38]
Chr7:73668679 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.422A>G (p.Asp141Gly) single nucleotide variant not specified [RCV004863183] Chr7:74246674 [GRCh38]
Chr7:73661004 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.449C>T (p.Ala150Val) single nucleotide variant not specified [RCV004850077] Chr7:74243232 [GRCh38]
Chr7:73657562 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.369T>G (p.Phe123Leu) single nucleotide variant not specified [RCV004850078] Chr7:74246727 [GRCh38]
Chr7:73661057 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.981A>G (p.Ile327Met) single nucleotide variant not specified [RCV004850079] Chr7:74232190 [GRCh38]
Chr7:73646520 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.634C>T (p.Pro212Ser) single nucleotide variant not specified [RCV005271889] Chr7:74239997 [GRCh38]
Chr7:73654327 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.1041G>T (p.Lys347Asn) single nucleotide variant not specified [RCV005271888] Chr7:74232130 [GRCh38]
Chr7:73646460 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_181471.3(RFC2):c.25G>A (p.Gly9Ser) single nucleotide variant not specified [RCV005271891] Chr7:74254359 [GRCh38]
Chr7:73668689 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3 copy number gain not provided [RCV004442782] Chr7:72701099..74186150 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72664461-74162586) copy number gain 7q11.23 microduplication syndrome [RCV003319591] Chr7:72664461..74162586 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3 copy number gain not specified [RCV003986700] Chr7:72732819..76003862 [GRCh37]
Chr7:7q11.23		 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2876
Count of miRNA genes:675
Interacting mature miRNAs:763
Transcripts:ENST00000055077, ENST00000352131, ENST00000463194, ENST00000470266, ENST00000473493, ENST00000479105, ENST00000480432, ENST00000485545, ENST00000491206, ENST00000493156, ENST00000494019, ENST00000497430
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597264421GWAS1360495_Htriglyceride measurement QTL GWAS1360495 (human)5e-12triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)77423741374237414Human

Markers in Region
SHGC-83052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,668,978 - 73,669,252UniSTSGRCh37
Build 36773,306,914 - 73,307,188RGDNCBI36
Celera769,148,544 - 69,148,818RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,550,535 - 69,550,809UniSTS
CRA_TCAGchr7v2773,002,050 - 73,002,324UniSTS
TNG Radiation Hybrid Map755491.0UniSTS
SHGC-32392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,645,844 - 73,645,993UniSTSGRCh37
Build 36773,283,780 - 73,283,929RGDNCBI36
Celera769,125,410 - 69,125,559RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,527,279 - 69,527,428UniSTS
CRA_TCAGchr7v2772,978,916 - 72,979,065UniSTS
TNG Radiation Hybrid Map755479.0UniSTS
GeneMap99-G3 RH Map73496.0UniSTS
G67237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,668,567 - 73,668,819UniSTSGRCh37
Build 36773,306,503 - 73,306,755RGDNCBI36
Celera769,148,133 - 69,148,385RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,550,124 - 69,550,376UniSTS
CRA_TCAGchr7v2773,001,639 - 73,001,891UniSTS
G67238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373126,566,497 - 126,566,890UniSTSGRCh37
GRCh37773,666,687 - 73,666,897UniSTSGRCh37
Build 363128,049,187 - 128,049,580RGDNCBI36
Celera3124,990,787 - 124,991,180RGD
Celera769,146,253 - 69,146,463UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q21.3UniSTS
HuRef769,548,244 - 69,548,454UniSTS
HuRef3123,946,481 - 123,946,874UniSTS
CRA_TCAGchr7v2772,999,759 - 72,999,969UniSTS
G67239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,664,014 - 73,664,209UniSTSGRCh37
Build 36773,301,950 - 73,302,145RGDNCBI36
Celera769,143,580 - 69,143,775RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,545,571 - 69,545,766UniSTS
CRA_TCAGchr7v2772,997,086 - 72,997,281UniSTS
G67240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,663,246 - 73,663,494UniSTSGRCh37
Build 36773,301,182 - 73,301,430RGDNCBI36
Celera769,142,812 - 69,143,060RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,544,803 - 69,545,051UniSTS
CRA_TCAGchr7v2772,996,318 - 72,996,566UniSTS
G67235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,654,238 - 73,654,505UniSTSGRCh37
Build 36773,292,174 - 73,292,441RGDNCBI36
Celera769,133,804 - 69,134,071RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,535,672 - 69,535,939UniSTS
CRA_TCAGchr7v2772,987,310 - 72,987,577UniSTS
G67236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,653,221 - 73,653,429UniSTSGRCh37
Build 36773,291,157 - 73,291,365RGDNCBI36
Celera769,132,787 - 69,132,995RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,534,656 - 69,534,864UniSTS
CRA_TCAGchr7v2772,986,293 - 72,986,501UniSTS
WI-22097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,645,836 - 73,646,042UniSTSGRCh37
Build 36773,283,772 - 73,283,978RGDNCBI36
Celera769,125,402 - 69,125,608RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,527,271 - 69,527,477UniSTS
CRA_TCAGchr7v2772,978,908 - 72,979,114UniSTS
GeneMap99-GB4 RH Map7424.83UniSTS
Whitehead-RH Map7368.6UniSTS
GDB:1317582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,650,404 - 73,650,576UniSTSGRCh37
Build 36773,288,340 - 73,288,512RGDNCBI36
Celera769,129,970 - 69,130,142RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,531,839 - 69,532,011UniSTS
CRA_TCAGchr7v2772,983,476 - 72,983,648UniSTS
RFC2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,646,237 - 73,646,434UniSTSGRCh37
Build 36773,284,173 - 73,284,370RGDNCBI36
Celera769,125,803 - 69,126,000RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,527,672 - 69,527,869UniSTS
CRA_TCAGchr7v2772,979,309 - 72,979,506UniSTS
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_927506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB451243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF045555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF483622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL560344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW450467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM563468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM810551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ070526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ674131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY046046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY056452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M87338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000055077   ⟹   ENSP00000055077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,231,502 - 74,254,399 (-)Ensembl
Ensembl Acc Id: ENST00000352131   ⟹   ENSP00000275627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,231,499 - 74,254,389 (-)Ensembl
Ensembl Acc Id: ENST00000463194   ⟹   ENSP00000419827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,238,937 - 74,254,389 (-)Ensembl
Ensembl Acc Id: ENST00000470266   ⟹   ENSP00000420513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,235,531 - 74,254,309 (-)Ensembl
Ensembl Acc Id: ENST00000473493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,246,715 - 74,254,376 (-)Ensembl
Ensembl Acc Id: ENST00000479105   ⟹   ENSP00000420392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,237,350 - 74,254,337 (-)Ensembl
Ensembl Acc Id: ENST00000480432   ⟹   ENSP00000418899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,235,532 - 74,254,407 (-)Ensembl
Ensembl Acc Id: ENST00000485545   ⟹   ENSP00000419320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,231,774 - 74,240,007 (-)Ensembl
Ensembl Acc Id: ENST00000491206   ⟹   ENSP00000420731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,237,408 - 74,252,494 (-)Ensembl
Ensembl Acc Id: ENST00000493156   ⟹   ENSP00000420563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,238,923 - 74,254,389 (-)Ensembl
Ensembl Acc Id: ENST00000494019   ⟹   ENSP00000419341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,235,531 - 74,254,367 (-)Ensembl
Ensembl Acc Id: ENST00000497430   ⟹   ENSP00000420404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,232,104 - 74,243,246 (-)Ensembl
Ensembl Acc Id: ENST00000621097   ⟹   ENSP00000479768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,231,504 - 74,254,458 (-)Ensembl
RefSeq Acc Id: NM_001278791   ⟹   NP_001265720
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,231,502 - 74,254,399 (-)NCBI
GRCh37773,645,832 - 73,668,788 (-)NCBI
HuRef769,527,267 - 69,550,345 (-)NCBI
CHM1_1773,790,894 - 73,813,879 (-)NCBI
T2T-CHM13v2.0775,433,796 - 75,456,693 (-)NCBI
CRA_TCAGchr7v2772,978,904 - 73,001,860 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278792   ⟹   NP_001265721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,231,502 - 74,254,399 (-)NCBI
HuRef769,527,267 - 69,550,345 (-)NCBI
CHM1_1773,790,894 - 73,813,879 (-)NCBI
T2T-CHM13v2.0775,433,796 - 75,456,693 (-)NCBI
CRA_TCAGchr7v2772,978,904 - 73,001,860 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278793   ⟹   NP_001265722
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,231,502 - 74,254,399 (-)NCBI
GRCh37773,645,832 - 73,668,788 (-)NCBI
HuRef769,527,267 - 69,550,345 (-)NCBI
CHM1_1773,790,894 - 73,813,879 (-)NCBI
T2T-CHM13v2.0775,433,796 - 75,456,693 (-)NCBI
CRA_TCAGchr7v2772,978,904 - 73,001,860 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002914   ⟹   NP_002905
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,231,502 - 74,254,399 (-)NCBI
GRCh37773,645,832 - 73,668,788 (-)NCBI
Build 36773,283,768 - 73,306,674 (-)NCBI Archive
HuRef769,527,267 - 69,550,345 (-)NCBI
CHM1_1773,790,894 - 73,813,879 (-)NCBI
T2T-CHM13v2.0775,433,796 - 75,456,693 (-)NCBI
CRA_TCAGchr7v2772,978,904 - 73,001,860 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181471   ⟹   NP_852136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,231,502 - 74,254,399 (-)NCBI
GRCh37773,645,832 - 73,668,788 (-)NCBI
Build 36773,283,768 - 73,306,674 (-)NCBI Archive
HuRef769,527,267 - 69,550,345 (-)NCBI
CHM1_1773,790,894 - 73,813,879 (-)NCBI
T2T-CHM13v2.0775,433,796 - 75,456,693 (-)NCBI
CRA_TCAGchr7v2772,978,904 - 73,001,860 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420683   ⟹   XP_047276639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,231,502 - 74,252,499 (-)NCBI
RefSeq Acc Id: XM_047420684   ⟹   XP_047276640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,237,356 - 74,254,399 (-)NCBI
RefSeq Acc Id: XM_054358753   ⟹   XP_054214728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0775,433,796 - 75,454,793 (-)NCBI
RefSeq Acc Id: XM_054358754   ⟹   XP_054214729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0775,439,650 - 75,456,693 (-)NCBI
RefSeq Acc Id: NP_002905   ⟸   NM_002914
- Peptide Label: isoform 2
- UniProtKB: Q75MT5 (UniProtKB/TrEMBL),   B5BUD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_852136   ⟸   NM_181471
- Peptide Label: isoform 1
- UniProtKB: P32846 (UniProtKB/Swiss-Prot),   D3DXG3 (UniProtKB/Swiss-Prot),   B5BU07 (UniProtKB/Swiss-Prot),   Q9BU93 (UniProtKB/Swiss-Prot),   P35250 (UniProtKB/Swiss-Prot),   B5BUD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265721   ⟸   NM_001278792
- Peptide Label: isoform 4
- UniProtKB: A0A087WVY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265722   ⟸   NM_001278793
- Peptide Label: isoform 5
- UniProtKB: H7C5P4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265720   ⟸   NM_001278791
- Peptide Label: isoform 3
- UniProtKB: P35250 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000419827   ⟸   ENST00000463194
Ensembl Acc Id: ENSP00000479768   ⟸   ENST00000621097
Ensembl Acc Id: ENSP00000420392   ⟸   ENST00000479105
Ensembl Acc Id: ENSP00000420731   ⟸   ENST00000491206
Ensembl Acc Id: ENSP00000420563   ⟸   ENST00000493156
Ensembl Acc Id: ENSP00000419341   ⟸   ENST00000494019
Ensembl Acc Id: ENSP00000418899   ⟸   ENST00000480432
Ensembl Acc Id: ENSP00000420404   ⟸   ENST00000497430
Ensembl Acc Id: ENSP00000275627   ⟸   ENST00000352131
Ensembl Acc Id: ENSP00000420513   ⟸   ENST00000470266
Ensembl Acc Id: ENSP00000419320   ⟸   ENST00000485545
Ensembl Acc Id: ENSP00000055077   ⟸   ENST00000055077
RefSeq Acc Id: XP_047276639   ⟸   XM_047420683
- Peptide Label: isoform X1
- UniProtKB: H7C5P4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276640   ⟸   XM_047420684
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054214728   ⟸   XM_054358753
- Peptide Label: isoform X1
- UniProtKB: H7C5P4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214729   ⟸   XM_054358754
- Peptide Label: isoform X2
Protein Domains
AAA+ ATPase   Magnesium chelatase ChlI-like catalytic   Replication factor C C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35250-F1-model_v2 AlphaFold P35250 1-354 view protein structure

Promoters
RGD ID:6813272
Promoter ID:HG_ACW:72812
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:RFC2.MAPR07,   RFC2.OAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36773,290,826 - 73,291,326 (-)MPROMDB
RGD ID:6806122
Promoter ID:HG_KWN:58002
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_181471,   OTTHUMT00000252458,   UC003UAL.1,   UC010LBP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36773,306,534 - 73,307,034 (-)MPROMDB
RGD ID:7210795
Promoter ID:EPDNEW_H11143
Type:initiation region
Name:RFC2_1
Description:replication factor C subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11144  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,254,399 - 74,254,459EPDNEW
RGD ID:7210797
Promoter ID:EPDNEW_H11144
Type:initiation region
Name:RFC2_2
Description:replication factor C subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11143  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,254,515 - 74,254,575EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9970 AgrOrtholog
COSMIC RFC2 COSMIC
Ensembl Genes ENSG00000049541 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000055077 ENTREZGENE
  ENST00000055077.8 UniProtKB/Swiss-Prot
  ENST00000352131 ENTREZGENE
  ENST00000352131.7 UniProtKB/Swiss-Prot
  ENST00000621097 ENTREZGENE
Gene3D-CATH 1.10.8.60 UniProtKB/Swiss-Prot
  1.20.272.10 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000049541 GTEx
HGNC ID HGNC:9970 ENTREZGENE
Human Proteome Map RFC2 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  ATPase_AAA_core UniProtKB/Swiss-Prot
  DNA_pol3_clamp-load_cplx_C UniProtKB/Swiss-Prot
  DNA_Rep/Repair_Clamp_Loader UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  Rep_factorC_C UniProtKB/Swiss-Prot
  RFC_lid UniProtKB/Swiss-Prot
KEGG Report hsa:5982 UniProtKB/Swiss-Prot
NCBI Gene 5982 ENTREZGENE
OMIM 600404 OMIM
PANTHER REPLICATION FACTOR C / DNA POLYMERASE III GAMMA-TAU SUBUNIT UniProtKB/Swiss-Prot
  REPLICATION FACTOR C SUBUNIT 2 UniProtKB/Swiss-Prot
Pfam AAA UniProtKB/Swiss-Prot
  Rep_fac_C UniProtKB/Swiss-Prot
PharmGKB PA34339 PharmGKB
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48019 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot
UniProt A0A087WVY3 ENTREZGENE, UniProtKB/TrEMBL
  B5BU07 ENTREZGENE
  B5BUD2 ENTREZGENE, UniProtKB/TrEMBL
  D3DXG3 ENTREZGENE
  F8WC37_HUMAN UniProtKB/TrEMBL
  F8WDC9_HUMAN UniProtKB/TrEMBL
  H7C596_HUMAN UniProtKB/TrEMBL
  H7C5A0_HUMAN UniProtKB/TrEMBL
  H7C5G4_HUMAN UniProtKB/TrEMBL
  H7C5P1_HUMAN UniProtKB/TrEMBL
  H7C5P4 ENTREZGENE, UniProtKB/TrEMBL
  H7C5Q7_HUMAN UniProtKB/TrEMBL
  H7C5S7_HUMAN UniProtKB/TrEMBL
  P32846 ENTREZGENE
  P35250 ENTREZGENE
  Q75MT5 ENTREZGENE, UniProtKB/TrEMBL
  Q9BU93 ENTREZGENE
  RFC2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B5BU07 UniProtKB/Swiss-Prot
  D3DXG3 UniProtKB/Swiss-Prot
  P32846 UniProtKB/Swiss-Prot
  Q9BU93 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 RFC2  replication factor C subunit 2  RFC2  replication factor C (activator 1) 2, 40kDa  Symbol and/or name change 5135510 APPROVED