SLIT2 (slit guidance ligand 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SLIT2 (slit guidance ligand 2) Homo sapiens
Analyze
Symbol: SLIT2
Name: slit guidance ligand 2
RGD ID: 733021
HGNC Page HGNC:11086
Description: Enables several functions, including GTPase inhibitor activity; Roundabout binding activity; and heparin binding activity. Involved in several processes, including negative regulation of cell migration; negative regulation of cellular component organization; and neuron development. Located in cell surface; cytoplasm; and extracellular space. Biomarker of atrial fibrillation; dermatomyositis; polymyositis; and proliferative diabetic retinopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ14420; SLIL3; slit homolog 2 protein; Slit-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38420,251,905 - 20,620,561 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl420,251,905 - 20,620,561 (+)EnsemblGRCh38hg38GRCh38
GRCh37420,253,528 - 20,622,184 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36419,864,333 - 20,229,886 (+)NCBINCBI36Build 36hg18NCBI36
Build 34419,931,503 - 20,297,057NCBI
Celera420,712,350 - 21,077,291 (+)NCBICelera
Cytogenetic Map4p15.31NCBI
HuRef419,604,199 - 19,969,514 (+)NCBIHuRef
CHM1_1420,253,276 - 20,618,733 (+)NCBICHM1_1
T2T-CHM13v2.0420,234,597 - 20,602,238 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetaldehyde  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
cytarabine  (EXP)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dimethylarsinous acid  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
enniatin  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
flusilazole  (ISO)
folic acid  (EXP,ISO)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
hexaconazole  (ISO)
iron dichloride  (EXP)
ketoconazole  (EXP)
L-methionine  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP,ISO)
mifepristone  (ISO)
Muraglitazar  (ISO)
N-acetyl-1,4-benzoquinone imine  (EXP)
nickel sulfate  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PD 0325901  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
pyrimidifen  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
temozolomide  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP)
thapsigargin  (EXP)
thifluzamide  (EXP)
topotecan  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aortic valve morphogenesis  (ISS)
apoptotic process involved in luteolysis  (IEP)
axon extension involved in axon guidance  (IDA)
axon guidance  (IDA,IEA,ISO)
axonogenesis  (ISO)
branching morphogenesis of an epithelial tube  (IDA,IMP)
cell differentiation  (IEA)
cell migration involved in sprouting angiogenesis  (IMP)
cell-cell adhesion  (ISO)
cellular response to heparin  (IDA)
cellular response to hormone stimulus  (IEP)
cellular response to hypoxia  (ISO)
cellular response to platelet-derived growth factor stimulus  (ISO)
chemorepulsion involved in embryonic olfactory bulb interneuron precursor migration  (IDA)
chemorepulsion involved in postnatal olfactory bulb interneuron migration  (IDA)
chemotaxis  (IEA)
corticospinal neuron axon guidance through spinal cord  (IMP)
dorsal/ventral axon guidance  (ISO)
in utero embryonic development  (ISO)
induction of negative chemotaxis  (IDA)
kidney development  (ISO)
long-term memory  (IEA)
mammary duct terminal end bud growth  (ISO)
mammary gland duct morphogenesis  (ISO)
metanephros development  (ISO)
motor neuron axon guidance  (IDA)
negative chemotaxis  (IBA,IDA,IEA,IMP,ISO)
negative regulation of actin filament polymerization  (IDA)
negative regulation of axon extension  (ISO)
negative regulation of cell growth  (IBA,IEA,IMP)
negative regulation of cell migration  (IDA,IMP)
negative regulation of cell population proliferation  (ISO)
negative regulation of cellular response to growth factor stimulus  (IDA)
negative regulation of chemokine-mediated signaling pathway  (IMP)
negative regulation of endothelial cell migration  (IDA)
negative regulation of gene expression  (ISO)
negative regulation of lamellipodium assembly  (IDA)
negative regulation of leukocyte chemotaxis  (IDA)
negative regulation of monocyte chemotaxis  (ISS)
negative regulation of mononuclear cell migration  (IDA)
negative regulation of neutrophil chemotaxis  (IDA)
negative regulation of protein phosphorylation  (IDA)
negative regulation of retinal ganglion cell axon guidance  (IDA)
negative regulation of small GTPase mediated signal transduction  (IDA)
negative regulation of smooth muscle cell chemotaxis  (IDA)
negative regulation of smooth muscle cell migration  (IDA)
negative regulation of vascular permeability  (IDA)
nervous system development  (IEA)
neuron projection extension  (ISO)
neuron projection morphogenesis  (ISO)
olfactory bulb development  (ISO)
positive regulation of apoptotic process  (IMP)
positive regulation of axonogenesis  (TAS)
positive regulation of synapse assembly  (ISO)
pulmonary valve morphogenesis  (ISS)
response to cortisol  (IEP)
response to nutrient levels  (ISO)
retinal ganglion cell axon guidance  (IBA,IDA,IEA,ISO)
Roundabout signaling pathway  (IC,IMP)
spinal cord development  (ISO)
telencephalon cell migration  (ISO)
ureteric bud development  (IMP)
ventricular septum morphogenesis  (ISS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. A Study Based on the Correlation Between Slit2/Robo1 Signaling Pathway Proteins and Polymyositis/Dermatomyositis. Chai KX, etal., Curr Mol Med. 2020;20(9):717-722. doi: 10.2174/1566524020666200326102837.
2. Upregulation of Slit-2 and Slit-3 gene expressions in the nitrofen-induced hypoplastic lung. Doi T, etal., J Pediatr Surg. 2009 Nov;44(11):2092-5. doi: 10.1016/j.jpedsurg.2009.02.068.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Cloning and expressions of three mammalian homologues of Drosophila slit suggest possible roles for Slit in the formation and maintenance of the nervous system. Itoh A, etal., Brain Res Mol Brain Res 1998 Nov 20;62(2):175-86.
5. Increased Expression of Slit2 and its Robo Receptors During Astroglial Scar Formation After Transient Focal Cerebral Ischemia in Rats. Jin X, etal., Neurochem Res. 2016 Dec;41(12):3373-3385. doi: 10.1007/s11064-016-2072-0. Epub 2016 Sep 29.
6. Modulation of inflammation by slit protein in vivo in experimental crescentic glomerulonephritis. Kanellis J, etal., Am J Pathol. 2004 Jul;165(1):341-52.
7. Recombinant Slit2 attenuates neuronal apoptosis via the Robo1-srGAP1 pathway in a rat model of neonatal HIE. Kaur H, etal., Neuropharmacology. 2019 Nov 1;158:107727. doi: 10.1016/j.neuropharm.2019.107727. Epub 2019 Jul 26.
8. Slit2/Robo1 Mediation of Synaptic Plasticity Contributes to Bone Cancer Pain. Ke C, etal., Mol Neurobiol. 2017 Jan;54(1):295-307. doi: 10.1007/s12035-015-9564-9. Epub 2016 Jan 6.
9. Slit2/Robo1 promotes synaptogenesis and functional recovery of spinal cord injury. Li Y, etal., Neuroreport. 2017 Jan 18;28(2):75-81. doi: 10.1097/WNR.0000000000000715.
10. Potential Role of Axonal Chemorepellent Slit2 in Modulating Adventitial Inflammation in a Rat Carotid Artery Balloon Injury Model. Liu D, etal., J Cardiovasc Pharmacol. 2016 May;67(5):433-41. doi: 10.1097/FJC.0000000000000369.
11. Expression of Slit2 and Robo1 after traumatic lesions of the rat spinal cord. Liu JB, etal., Acta Histochem. 2009 Sep 22.
12. Crosstalk between the activated Slit2-Robo1 pathway and TGF-β1 signalling promotes cardiac fibrosis. Liu Y, etal., ESC Heart Fail. 2021 Feb;8(1):447-460. doi: 10.1002/ehf2.13095. Epub 2020 Nov 24.
13. Disrupted Slit-Robo signalling results in membranous ventricular septum defects and bicuspid aortic valves. Mommersteeg MT, etal., Cardiovasc Res. 2015 Apr 1;106(1):55-66. doi: 10.1093/cvr/cvv040. Epub 2015 Feb 17.
14. Increased expression of Slit2 and its receptors Robo1 and Robo4 in reactive astrocytes of the rat hippocampus after transient forebrain ischemia. Park JH, etal., Brain Res. 2016 Mar 1;1634:45-56. doi: 10.1016/j.brainres.2015.12.056. Epub 2016 Jan 4.
15. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. Recombinant Slit2 attenuates neuroinflammation after surgical brain injury by inhibiting peripheral immune cell infiltration via Robo1-srGAP1 pathway in a rat model. Sherchan P, etal., Neurobiol Dis. 2016 Jan;85:164-173. doi: 10.1016/j.nbd.2015.11.003. Epub 2015 Nov 10.
19. The expression of the Slit-Robo signal in the retina of diabetic rats and the vitreous or fibrovascular retinal membranes of patients with proliferative diabetic retinopathy. Zhou W, etal., PLoS One. 2017 Oct 3;12(10):e0185795. doi: 10.1371/journal.pone.0185795. eCollection 2017.
Additional References at PubMed
PMID:7829101   PMID:10102266   PMID:10102268   PMID:10102269   PMID:10197527   PMID:10349621   PMID:10364234   PMID:10432110   PMID:10575218   PMID:10737800   PMID:10864954   PMID:10892742  
PMID:10975526   PMID:11222645   PMID:11239147   PMID:11309622   PMID:11375980   PMID:11404413   PMID:11748139   PMID:12141424   PMID:12200164   PMID:12384551   PMID:12477932   PMID:12615722  
PMID:12881718   PMID:12941633   PMID:14645233   PMID:14702039   PMID:15130495   PMID:15207848   PMID:15489334   PMID:16162649   PMID:16344560   PMID:16439689   PMID:16636676   PMID:16840550  
PMID:17062560   PMID:17268810   PMID:17314511   PMID:17448996   PMID:17496152   PMID:17609981   PMID:17848514   PMID:17903301   PMID:17968499   PMID:18269211   PMID:18345009   PMID:18566128  
PMID:18611862   PMID:18829537   PMID:18985028   PMID:19005219   PMID:19033678   PMID:19048120   PMID:19056867   PMID:19100240   PMID:19350278   PMID:19351956   PMID:19498462   PMID:19550140  
PMID:19706539   PMID:19759280   PMID:19851296   PMID:19855388   PMID:19913121   PMID:20008733   PMID:20029409   PMID:20068157   PMID:20153733   PMID:20198315   PMID:20375003   PMID:20379614  
PMID:20438712   PMID:20628086   PMID:20944010   PMID:21264840   PMID:21283129   PMID:21349947   PMID:21385904   PMID:21465248   PMID:21627385   PMID:21653829   PMID:21686327   PMID:21857494  
PMID:21873635   PMID:21894562   PMID:21986575   PMID:22011669   PMID:22198087   PMID:22241990   PMID:22315090   PMID:22532293   PMID:22613430   PMID:22719878   PMID:22826604   PMID:22865890  
PMID:22875847   PMID:22898079   PMID:23119100   PMID:23294842   PMID:23314748   PMID:23314850   PMID:23333304   PMID:23376485   PMID:23381221   PMID:23671423   PMID:23694962   PMID:23702092  
PMID:23933755   PMID:24272999   PMID:24287947   PMID:24297051   PMID:24448236   PMID:24673457   PMID:24711643   PMID:24777535   PMID:24840330   PMID:24981056   PMID:24981860   PMID:25114073  
PMID:25130654   PMID:25329354   PMID:25333347   PMID:25465073   PMID:25489114   PMID:25490006   PMID:25590802   PMID:25605242   PMID:25786906   PMID:26002231   PMID:26021305   PMID:26026792  
PMID:26186194   PMID:26264936   PMID:26282852   PMID:26400100   PMID:26456684   PMID:26542734   PMID:26582347   PMID:26713366   PMID:26745454   PMID:26935705   PMID:27173435   PMID:27176045  
PMID:27431199   PMID:27659325   PMID:27888432   PMID:27916173   PMID:28380382   PMID:28402926   PMID:28406573   PMID:28485101   PMID:28514442   PMID:28986522   PMID:29107007   PMID:29299781  
PMID:29317497   PMID:29523788   PMID:29610848   PMID:29752312   PMID:30510066   PMID:30648543   PMID:30739251   PMID:30842157   PMID:30896071   PMID:30940648   PMID:31073040   PMID:31194736  
PMID:31393085   PMID:31571851   PMID:31753913   PMID:31791578   PMID:31862882   PMID:32086386   PMID:32460013   PMID:32738556   PMID:32994395   PMID:32999457   PMID:33028376   PMID:33068960  
PMID:33079290   PMID:33275139   PMID:33318575   PMID:33481259   PMID:33574432   PMID:33961781   PMID:34079125   PMID:34400395   PMID:34414975   PMID:34490644   PMID:34543483   PMID:34597346  
PMID:34709727   PMID:34777365   PMID:35271311   PMID:35426130   PMID:35563538   PMID:35813663   PMID:36232890   PMID:36243803   PMID:36250924   PMID:36411451   PMID:36894950   PMID:36912080  
PMID:37773612   PMID:38122948  


Genomics

Comparative Map Data
SLIT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38420,251,905 - 20,620,561 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl420,251,905 - 20,620,561 (+)EnsemblGRCh38hg38GRCh38
GRCh37420,253,528 - 20,622,184 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36419,864,333 - 20,229,886 (+)NCBINCBI36Build 36hg18NCBI36
Build 34419,931,503 - 20,297,057NCBI
Celera420,712,350 - 21,077,291 (+)NCBICelera
Cytogenetic Map4p15.31NCBI
HuRef419,604,199 - 19,969,514 (+)NCBIHuRef
CHM1_1420,253,276 - 20,618,733 (+)NCBICHM1_1
T2T-CHM13v2.0420,234,597 - 20,602,238 (+)NCBIT2T-CHM13v2.0
Slit2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39548,138,633 - 48,465,077 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl548,140,480 - 48,465,075 (+)EnsemblGRCm39 Ensembl
GRCm38547,981,291 - 48,307,735 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl547,983,138 - 48,307,733 (+)EnsemblGRCm38mm10GRCm38
MGSCv37548,374,394 - 48,697,017 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36548,273,041 - 48,593,759 (+)NCBIMGSCv36mm8
Celera545,381,658 - 45,708,133 (+)NCBICelera
Cytogenetic Map5B3NCBI
cM Map526.05NCBI
Slit2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81466,829,661 - 67,168,517 (-)NCBIGRCr8
mRatBN7.21462,616,337 - 62,955,934 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1462,617,067 - 62,955,948 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1467,016,997 - 67,353,404 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01468,330,637 - 68,667,055 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01464,727,393 - 65,063,822 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01466,831,848 - 67,171,491 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1466,831,848 - 67,170,361 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01466,864,065 - 67,202,691 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41467,546,283 - 67,891,840 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11467,624,799 - 67,894,206 (-)NCBI
Celera1461,665,582 - 62,001,006 (-)NCBICelera
Cytogenetic Map14q11NCBI
Slit2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554803,984,586 - 4,313,908 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554803,982,977 - 4,314,160 (-)NCBIChiLan1.0ChiLan1.0
SLIT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2320,490,764 - 20,869,771 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1420,698,666 - 21,066,091 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0414,654,448 - 15,023,708 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1419,946,369 - 20,314,656 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl420,158,952 - 20,314,656 (+)Ensemblpanpan1.1panPan2
SLIT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1388,964,707 - 89,311,817 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl388,966,232 - 89,312,955 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha391,423,926 - 91,773,328 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0389,948,981 - 90,297,465 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl389,948,988 - 90,298,073 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1389,094,518 - 89,443,898 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0389,179,097 - 89,528,769 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0389,562,948 - 89,912,569 (-)NCBIUU_Cfam_GSD_1.0
Slit2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528554,409,516 - 54,746,912 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364778,109,228 - 8,446,653 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364778,111,212 - 8,448,567 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLIT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl814,758,335 - 15,149,510 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1814,758,426 - 15,149,515 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2814,998,769 - 15,257,500 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLIT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12729,650,589 - 30,020,105 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2729,650,337 - 29,803,612 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604776,267,556 - 76,654,726 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slit2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475511,472,377 - 11,819,266 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475511,470,810 - 11,819,800 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLIT2
236 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004787.4(SLIT2):c.4334dup (p.Asp1445fs) duplication not provided [RCV000722592] Chr4:20617635..20617636 [GRCh38]
Chr4:20619258..20619259 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.151A>G (p.Arg51Gly) single nucleotide variant not provided [RCV000722871] Chr4:20253966 [GRCh38]
Chr4:20255589 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3610G>T (p.Asp1204Tyr) single nucleotide variant not provided [RCV000723012] Chr4:20598313 [GRCh38]
Chr4:20599936 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
NM_004787.4(SLIT2):c.849C>T (p.Ile283=) single nucleotide variant not provided [RCV003434985] Chr4:20491834 [GRCh38]
Chr4:20493457 [GRCh37]
Chr4:20102555 [NCBI36]
Chr4:4p15.31
likely benign|not provided
NM_004787.2(SLIT2):c.2247G>A (p.Pro749=) single nucleotide variant Malignant melanoma [RCV000066389] Chr4:20542597 [GRCh38]
Chr4:20544220 [GRCh37]
Chr4:20153318 [NCBI36]
Chr4:4p15.31
not provided
NM_004787.2(SLIT2):c.2909G>A (p.Gly970Glu) single nucleotide variant Malignant melanoma [RCV000066390] Chr4:20567576 [GRCh38]
Chr4:20569199 [GRCh37]
Chr4:20178297 [NCBI36]
Chr4:4p15.31
not provided
NM_004787.4(SLIT2):c.3972G>A (p.Pro1324=) single nucleotide variant not provided [RCV002595927] Chr4:20617034 [GRCh38]
Chr4:20618657 [GRCh37]
Chr4:20227755 [NCBI36]
Chr4:4p15.31
likely benign|not provided
NM_004787.2(SLIT2):c.4044C>A (p.Pro1348=) single nucleotide variant Malignant melanoma [RCV000066392] Chr4:20617106 [GRCh38]
Chr4:20618729 [GRCh37]
Chr4:20227827 [NCBI36]
Chr4:4p15.31
not provided
NM_004787.2(SLIT2):c.1032C>T (p.Phe344=) single nucleotide variant Malignant melanoma [RCV000060962] Chr4:20511111 [GRCh38]
Chr4:20512734 [GRCh37]
Chr4:20121832 [NCBI36]
Chr4:4p15.31
not provided
NM_004787.2(SLIT2):c.2539G>A (p.Asp847Asn) single nucleotide variant Malignant melanoma [RCV000060963] Chr4:20550876 [GRCh38]
Chr4:20552499 [GRCh37]
Chr4:20161597 [NCBI36]
Chr4:4p15.31
not provided
NM_004787.2(SLIT2):c.3226G>A (p.Asp1076Asn) single nucleotide variant Malignant melanoma [RCV000060964] Chr4:20595740 [GRCh38]
Chr4:20597363 [GRCh37]
Chr4:20206461 [NCBI36]
Chr4:4p15.31
not provided
NM_004787.4(SLIT2):c.3618C>T (p.Ile1206=) single nucleotide variant not provided [RCV002597150] Chr4:20598321 [GRCh38]
Chr4:20599944 [GRCh37]
Chr4:20209042 [NCBI36]
Chr4:4p15.31
likely benign|not provided
NM_001289135.1(SLIT2):c.539+2139T>C single nucleotide variant Lung cancer [RCV000094538] Chr4:20482926 [GRCh38]
Chr4:20484549 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_001289135.1(SLIT2):c.3549+656A>T single nucleotide variant Lung cancer [RCV000094539] Chr4:20597311 [GRCh38]
Chr4:20598934 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4220A>G (p.Asp1407Gly) single nucleotide variant Inborn genetic diseases [RCV000190732] Chr4:20617522 [GRCh38]
Chr4:20619145 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1 copy number loss See cases [RCV000135806] Chr4:16925022..32113076 [GRCh38]
Chr4:16926645..32114698 [GRCh37]
Chr4:16535743..31758596 [NCBI36]
Chr4:4p15.32-15.1
pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p15.32-15.2(chr4:17041381-22524915)x1 copy number loss See cases [RCV000139200] Chr4:17041381..22524915 [GRCh38]
Chr4:17043004..22526538 [GRCh37]
Chr4:16652102..22135636 [NCBI36]
Chr4:4p15.32-15.2
uncertain significance
GRCh38/hg38 4p15.31(chr4:19186844-20838471)x1 copy number loss See cases [RCV000141949] Chr4:19186844..20838471 [GRCh38]
Chr4:19188467..20840094 [GRCh37]
Chr4:18797565..20449192 [NCBI36]
Chr4:4p15.31
uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p15.31-15.2(chr4:19500341-24407802)x1 copy number loss See cases [RCV000447582] Chr4:19500341..24407802 [GRCh37]
Chr4:4p15.31-15.2
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p15.31-15.2(chr4:19833291-23519386)x3 copy number gain See cases [RCV000447145] Chr4:19833291..23519386 [GRCh37]
Chr4:4p15.31-15.2
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
GRCh37/hg19 4p15.31(chr4:19744024-20355050)x1 copy number loss See cases [RCV000512379] Chr4:19744024..20355050 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p15.31(chr4:20386044-20408433)x1 copy number loss not provided [RCV000743438] Chr4:20386044..20408433 [GRCh37]
Chr4:4p15.31
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1 copy number loss not provided [RCV000998337] Chr4:13529798..22750583 [GRCh37]
Chr4:4p15.33-15.2
uncertain significance
NM_004787.4(SLIT2):c.3693-4G>T single nucleotide variant not provided [RCV000949903] Chr4:20610009 [GRCh38]
Chr4:20611632 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3009A>G (p.Glu1003=) single nucleotide variant not provided [RCV000885178] Chr4:20568925 [GRCh38]
Chr4:20570548 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.3765C>T (p.Ser1255=) single nucleotide variant not provided [RCV000924007] Chr4:20610085 [GRCh38]
Chr4:20611708 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3288C>T (p.Asn1096=) single nucleotide variant SLIT2-related condition [RCV003975639]|not provided [RCV000892092] Chr4:20595802 [GRCh38]
Chr4:20597425 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.4049G>A (p.Ser1350Asn) single nucleotide variant SLIT2-related condition [RCV003913278]|not provided [RCV000949493] Chr4:20617111 [GRCh38]
Chr4:20618734 [GRCh37]
Chr4:4p15.31
benign|likely benign
NM_004787.4(SLIT2):c.275G>A (p.Ser92Asn) single nucleotide variant SLIT2-related condition [RCV003960399]|not provided [RCV000921533] Chr4:20257891 [GRCh38]
Chr4:20259514 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3723C>T (p.His1241=) single nucleotide variant not provided [RCV000921534] Chr4:20610043 [GRCh38]
Chr4:20611666 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3220G>C (p.Asp1074His) single nucleotide variant SLIT2-related condition [RCV003912849]|not provided [RCV000899857] Chr4:20595734 [GRCh38]
Chr4:20597357 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3693-9C>T single nucleotide variant not provided [RCV000949704] Chr4:20610004 [GRCh38]
Chr4:20611627 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4269T>C (p.His1423=) single nucleotide variant not provided [RCV000949706] Chr4:20617571 [GRCh38]
Chr4:20619194 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.3621G>T (p.Ala1207=) single nucleotide variant not provided [RCV000924471] Chr4:20598324 [GRCh38]
Chr4:20599947 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.195T>C (p.Asn65=) single nucleotide variant not provided [RCV000926261] Chr4:20256687 [GRCh38]
Chr4:20258310 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.4574C>T (p.Thr1525Met) single nucleotide variant not provided [RCV000969020] Chr4:20618993 [GRCh38]
Chr4:20620616 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4563G>C (p.Lys1521Asn) single nucleotide variant Inborn genetic diseases [RCV003266413] Chr4:20618982 [GRCh38]
Chr4:20620605 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281) copy number loss 4p partial monosomy syndrome [RCV000767790] Chr4:19186845..24548281 [GRCh37]
Chr4:4p15.31-15.2
pathogenic
NM_004787.4(SLIT2):c.1190A>G (p.Asn397Ser) single nucleotide variant Inborn genetic diseases [RCV002549583]|not provided [RCV000982220] Chr4:20523819 [GRCh38]
Chr4:20525442 [GRCh37]
Chr4:4p15.31
likely benign|uncertain significance
NM_004787.4(SLIT2):c.1722G>A (p.Glu574=) single nucleotide variant not provided [RCV000938134] Chr4:20533605 [GRCh38]
Chr4:20535228 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3198A>G (p.Pro1066=) single nucleotide variant not provided [RCV000902486] Chr4:20595712 [GRCh38]
Chr4:20597335 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.27G>C (p.Leu9=) single nucleotide variant SLIT2-related condition [RCV003948350]|not provided [RCV000884523] Chr4:20253842 [GRCh38]
Chr4:20255465 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.2144-7G>A single nucleotide variant not provided [RCV000884524] Chr4:20542487 [GRCh38]
Chr4:20544110 [GRCh37]
Chr4:4p15.31
likely benign
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1
pathogenic
NM_004787.4(SLIT2):c.1697G>A (p.Ser566Asn) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV000845120]|not provided [RCV000782260] Chr4:20533580 [GRCh38]
Chr4:20535203 [GRCh37]
Chr4:4p15.31
pathogenic|uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
NM_004787.4(SLIT2):c.292G>A (p.Ala98Thr) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV000845119] Chr4:20257908 [GRCh38]
Chr4:20259531 [GRCh37]
Chr4:4p15.31
pathogenic
NM_004787.4(SLIT2):c.2712A>T (p.Lys904Asn) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV000845121] Chr4:20553955 [GRCh38]
Chr4:20555578 [GRCh37]
Chr4:4p15.31
pathogenic
NM_004787.4(SLIT2):c.2402C>T (p.Thr801Ile) single nucleotide variant Inborn genetic diseases [RCV003271609] Chr4:20548544 [GRCh38]
Chr4:20550167 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2802T>A (p.Asn934Lys) single nucleotide variant Inborn genetic diseases [RCV003272312] Chr4:20567338 [GRCh38]
Chr4:20568961 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3130C>T (p.Leu1044=) single nucleotide variant not provided [RCV000888064] Chr4:20589685 [GRCh38]
Chr4:20591308 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.3693-7G>T single nucleotide variant not provided [RCV000949705] Chr4:20610006 [GRCh38]
Chr4:20611629 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1209A>G (p.Leu403=) single nucleotide variant SLIT2-related condition [RCV003958231]|not provided [RCV000905983] Chr4:20523838 [GRCh38]
Chr4:20525461 [GRCh37]
Chr4:4p15.31
benign|likely benign
NM_004787.4(SLIT2):c.4253C>T (p.Ala1418Val) single nucleotide variant SLIT2-related condition [RCV003915868]|not provided [RCV000955332] Chr4:20617555 [GRCh38]
Chr4:20619178 [GRCh37]
Chr4:4p15.31
benign|likely benign
NM_004787.4(SLIT2):c.1584G>A (p.Pro528=) single nucleotide variant SLIT2-related condition [RCV003978361]|not provided [RCV000960841] Chr4:20529070 [GRCh38]
Chr4:20530693 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.69G>A (p.Val23=) single nucleotide variant not provided [RCV000964958] Chr4:20253884 [GRCh38]
Chr4:20255507 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.2144-8C>T single nucleotide variant SLIT2-related condition [RCV003975705]|not provided [RCV000898939] Chr4:20542486 [GRCh38]
Chr4:20544109 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1833-6C>T single nucleotide variant not provided [RCV000910948] Chr4:20539435 [GRCh38]
Chr4:20541058 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.1620C>G (p.Leu540=) single nucleotide variant SLIT2-related condition [RCV003930773]|not provided [RCV000890291] Chr4:20531990 [GRCh38]
Chr4:20533613 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.4267C>A (p.His1423Asn) single nucleotide variant not provided [RCV000913644] Chr4:20617569 [GRCh38]
Chr4:20619192 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4170G>A (p.Ala1390=) single nucleotide variant not provided [RCV000890691] Chr4:20617472 [GRCh38]
Chr4:20619095 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.1044C>T (p.Arg348=) single nucleotide variant SLIT2-related condition [RCV003915903]|not provided [RCV000956182] Chr4:20511123 [GRCh38]
Chr4:20512746 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.3225C>T (p.Ile1075=) single nucleotide variant not provided [RCV000912527] Chr4:20595739 [GRCh38]
Chr4:20597362 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3915C>T (p.His1305=) single nucleotide variant not provided [RCV000913053] Chr4:20616977 [GRCh38]
Chr4:20618600 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2853G>A (p.Gly951=) single nucleotide variant not provided [RCV000935002] Chr4:20567520 [GRCh38]
Chr4:20569143 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3350T>C (p.Met1117Thr) single nucleotide variant not provided [RCV003328009] Chr4:20596444 [GRCh38]
Chr4:20598067 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_004787.4(SLIT2):c.1059-12T>C single nucleotide variant not provided [RCV001671727] Chr4:20519370 [GRCh38]
Chr4:20520993 [GRCh37]
Chr4:4p15.31
benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1 copy number loss not provided [RCV001005527] Chr4:20406475..29134345 [GRCh37]
Chr4:4p15.31-15.1
pathogenic
GRCh37/hg19 4p15.31(chr4:20286376-21087147)x3 copy number gain not provided [RCV001259842] Chr4:20286376..21087147 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3632A>G (p.Tyr1211Cys) single nucleotide variant not provided [RCV003107245] Chr4:20598335 [GRCh38]
Chr4:20599958 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128) copy number loss not specified [RCV002053409] Chr4:19892850..37325128 [GRCh37]
Chr4:4p15.31-14
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
NM_004787.4(SLIT2):c.934A>G (p.Ile312Val) single nucleotide variant SLIT2-related condition [RCV003958455]|not provided [RCV001961444] Chr4:20510514 [GRCh38]
Chr4:20512137 [GRCh37]
Chr4:4p15.31
likely benign|uncertain significance
NM_004787.4(SLIT2):c.3693-10dup duplication not provided [RCV002116429] Chr4:20609994..20609995 [GRCh38]
Chr4:20611617..20611618 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1274+11G>A single nucleotide variant not provided [RCV002147556] Chr4:20523914 [GRCh38]
Chr4:20525537 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.1688+26_1688+27dup duplication not provided [RCV002132046] Chr4:20532077..20532078 [GRCh38]
Chr4:20533700..20533701 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.663C>T (p.Ser221=) single nucleotide variant not provided [RCV002132472] Chr4:20488870 [GRCh38]
Chr4:20490493 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.2561+12G>C single nucleotide variant not provided [RCV002095600] Chr4:20550910 [GRCh38]
Chr4:20552533 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1688+27dup duplication not provided [RCV002132403] Chr4:20532077..20532078 [GRCh38]
Chr4:20533700..20533701 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.2211C>T (p.Val737=) single nucleotide variant not provided [RCV002193088] Chr4:20542561 [GRCh38]
Chr4:20544184 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.2948+16A>G single nucleotide variant not provided [RCV002195686] Chr4:20567631 [GRCh38]
Chr4:20569254 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.2550A>C (p.Ala850=) single nucleotide variant not provided [RCV002220132] Chr4:20550887 [GRCh38]
Chr4:20552510 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.3693-7G>A single nucleotide variant not provided [RCV002220951] Chr4:20610006 [GRCh38]
Chr4:20611629 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.1613+15C>T single nucleotide variant not provided [RCV002118055] Chr4:20529114 [GRCh38]
Chr4:20530737 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.1671T>C (p.Leu557=) single nucleotide variant SLIT2-related condition [RCV003913728]|not provided [RCV002118037] Chr4:20532041 [GRCh38]
Chr4:20533664 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.1956T>C (p.Thr652=) single nucleotide variant SLIT2-related condition [RCV003958760]|not provided [RCV002136774] Chr4:20539564 [GRCh38]
Chr4:20541187 [GRCh37]
Chr4:4p15.31
benign|likely benign
NM_004787.4(SLIT2):c.179+3G>A single nucleotide variant not provided [RCV002122748] Chr4:20253997 [GRCh38]
Chr4:20255620 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.4137-4G>A single nucleotide variant SLIT2-related condition [RCV003968866]|not provided [RCV002102951] Chr4:20617435 [GRCh38]
Chr4:20619058 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.242T>A (p.Leu81Gln) single nucleotide variant not provided [RCV003109973] Chr4:20256734 [GRCh38]
Chr4:20258357 [GRCh37]
Chr4:4p15.31
uncertain significance
NC_000004.11:g.(?_20568865)_(20570647_?)del deletion not provided [RCV003113594] Chr4:20568865..20570647 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4436G>A (p.Arg1479Gln) single nucleotide variant not provided [RCV003112787] Chr4:20618855 [GRCh38]
Chr4:20620478 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.635A>T (p.Tyr212Phe) single nucleotide variant not provided [RCV003229992] Chr4:20488842 [GRCh38]
Chr4:20490465 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p15.32-15.2(chr4:16249194-24864955)x1 copy number loss not provided [RCV002474848] Chr4:16249194..24864955 [GRCh37]
Chr4:4p15.32-15.2
uncertain significance
NM_004787.4(SLIT2):c.88G>A (p.Ala30Thr) single nucleotide variant not provided [RCV002730321] Chr4:20253903 [GRCh38]
Chr4:20255526 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1430G>A (p.Arg477His) single nucleotide variant not provided [RCV002616318] Chr4:20524169 [GRCh38]
Chr4:20525792 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3336G>A (p.Glu1112=) single nucleotide variant SLIT2-related condition [RCV003943686]|not provided [RCV002972186] Chr4:20596430 [GRCh38]
Chr4:20598053 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4567G>A (p.Gly1523Ser) single nucleotide variant Inborn genetic diseases [RCV002753390] Chr4:20618986 [GRCh38]
Chr4:20620609 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1622A>G (p.Asn541Ser) single nucleotide variant Inborn genetic diseases [RCV002754405] Chr4:20531992 [GRCh38]
Chr4:20533615 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4544A>T (p.Glu1515Val) single nucleotide variant not provided [RCV002755168] Chr4:20618963 [GRCh38]
Chr4:20620586 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3148G>A (p.Asp1050Asn) single nucleotide variant Inborn genetic diseases [RCV002968183] Chr4:20589703 [GRCh38]
Chr4:20591326 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2703C>T (p.Pro901=) single nucleotide variant SLIT2-related condition [RCV003936291]|not provided [RCV002681229] Chr4:20553946 [GRCh38]
Chr4:20555569 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1438+13C>G single nucleotide variant not provided [RCV002617844] Chr4:20524190 [GRCh38]
Chr4:20525813 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3971C>T (p.Pro1324Leu) single nucleotide variant Inborn genetic diseases [RCV002993207]|not provided [RCV003778543] Chr4:20617033 [GRCh38]
Chr4:20618656 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2993A>T (p.Asn998Ile) single nucleotide variant not provided [RCV002681541] Chr4:20568909 [GRCh38]
Chr4:20570532 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4168G>A (p.Ala1390Thr) single nucleotide variant Inborn genetic diseases [RCV002946087] Chr4:20617470 [GRCh38]
Chr4:20619093 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1689-14C>A single nucleotide variant not provided [RCV003033638] Chr4:20533558 [GRCh38]
Chr4:20535181 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3056A>G (p.Asn1019Ser) single nucleotide variant Inborn genetic diseases [RCV002818162] Chr4:20568972 [GRCh38]
Chr4:20570595 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh37/hg19 4p15.31(chr4:20043475-20281330)x4 copy number gain not provided [RCV002475750] Chr4:20043475..20281330 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4475G>A (p.Cys1492Tyr) single nucleotide variant not provided [RCV002462809] Chr4:20618894 [GRCh38]
Chr4:20620517 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.688G>T (p.Val230Phe) single nucleotide variant Inborn genetic diseases [RCV002864354] Chr4:20488895 [GRCh38]
Chr4:20490518 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3561+10_3561+27del deletion not provided [RCV002590768] Chr4:20596659..20596676 [GRCh38]
Chr4:20598282..20598299 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.734A>G (p.His245Arg) single nucleotide variant Inborn genetic diseases [RCV002909953]|not provided [RCV002933157] Chr4:20488941 [GRCh38]
Chr4:20490564 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4542C>G (p.Asp1514Glu) single nucleotide variant Inborn genetic diseases [RCV002845255] Chr4:20618961 [GRCh38]
Chr4:20620584 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4333G>C (p.Asp1445His) single nucleotide variant not provided [RCV002953495] Chr4:20617635 [GRCh38]
Chr4:20619258 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.1574A>T (p.Asn525Ile) single nucleotide variant Inborn genetic diseases [RCV002823291] Chr4:20529060 [GRCh38]
Chr4:20530683 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3220G>A (p.Asp1074Asn) single nucleotide variant not provided [RCV002658696] Chr4:20595734 [GRCh38]
Chr4:20597357 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2851-17T>C single nucleotide variant not provided [RCV002781472] Chr4:20567501 [GRCh38]
Chr4:20569124 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2561+14T>G single nucleotide variant not provided [RCV002795602] Chr4:20550912 [GRCh38]
Chr4:20552535 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.471A>G (p.Gln157=) single nucleotide variant not provided [RCV002979484] Chr4:20480719 [GRCh38]
Chr4:20482342 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1438+14G>A single nucleotide variant not provided [RCV002570126] Chr4:20524191 [GRCh38]
Chr4:20525814 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.658C>T (p.Leu220Phe) single nucleotide variant not provided [RCV002948990] Chr4:20488865 [GRCh38]
Chr4:20490488 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1689-6A>C single nucleotide variant not provided [RCV003037748] Chr4:20533566 [GRCh38]
Chr4:20535189 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3901G>A (p.Gly1301Arg) single nucleotide variant not provided [RCV002690898] Chr4:20616963 [GRCh38]
Chr4:20618586 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.895C>G (p.Pro299Ala) single nucleotide variant not provided [RCV003037317] Chr4:20491880 [GRCh38]
Chr4:20493503 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2435G>A (p.Arg812His) single nucleotide variant Inborn genetic diseases [RCV002910185]|not provided [RCV002910186] Chr4:20549074 [GRCh38]
Chr4:20550697 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1678T>C (p.Leu560=) single nucleotide variant SLIT2-related condition [RCV003943524]|not provided [RCV002912615] Chr4:20532048 [GRCh38]
Chr4:20533671 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1349T>C (p.Ile450Thr) single nucleotide variant not provided [RCV002927295] Chr4:20524088 [GRCh38]
Chr4:20525711 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1688+13T>A single nucleotide variant not provided [RCV003053972] Chr4:20532071 [GRCh38]
Chr4:20533694 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4115A>G (p.Asn1372Ser) single nucleotide variant not provided [RCV002639192] Chr4:20617177 [GRCh38]
Chr4:20618800 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2418-16A>T single nucleotide variant not provided [RCV002695130] Chr4:20549041 [GRCh38]
Chr4:20550664 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2373G>T (p.Thr791=) single nucleotide variant not provided [RCV003078736] Chr4:20548515 [GRCh38]
Chr4:20550138 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1163G>C (p.Arg388Pro) single nucleotide variant not provided [RCV002824954] Chr4:20523792 [GRCh38]
Chr4:20525415 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4542C>T (p.Asp1514=) single nucleotide variant SLIT2-related condition [RCV003898576]|not provided [RCV002913081] Chr4:20618961 [GRCh38]
Chr4:20620584 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.826G>A (p.Ala276Thr) single nucleotide variant not provided [RCV002637034] Chr4:20491811 [GRCh38]
Chr4:20493434 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2418-14_2418-13del microsatellite not provided [RCV002570929] Chr4:20549041..20549042 [GRCh38]
Chr4:20550664..20550665 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.2562-12T>G single nucleotide variant not provided [RCV002790880] Chr4:20553793 [GRCh38]
Chr4:20555416 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4519A>C (p.Thr1507Pro) single nucleotide variant Inborn genetic diseases [RCV002854552] Chr4:20618938 [GRCh38]
Chr4:20620561 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.986+10C>T single nucleotide variant not provided [RCV002875717] Chr4:20510576 [GRCh38]
Chr4:20512199 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1789G>A (p.Val597Met) single nucleotide variant not provided [RCV002954232] Chr4:20533672 [GRCh38]
Chr4:20535295 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.396-19TTG[3] microsatellite not provided [RCV002790564] Chr4:20467733..20467735 [GRCh38]
Chr4:20469356..20469358 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.180-20C>A single nucleotide variant not provided [RCV002572896] Chr4:20256652 [GRCh38]
Chr4:20258275 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.843C>A (p.Asn281Lys) single nucleotide variant Inborn genetic diseases [RCV002892839] Chr4:20491828 [GRCh38]
Chr4:20493451 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1463-17del deletion not provided [RCV002625732] Chr4:20528931 [GRCh38]
Chr4:20530554 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1163G>A (p.Arg388Gln) single nucleotide variant Inborn genetic diseases [RCV002696636] Chr4:20523792 [GRCh38]
Chr4:20525415 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3535C>T (p.Arg1179Trp) single nucleotide variant not provided [RCV002594838] Chr4:20596629 [GRCh38]
Chr4:20598252 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1976+17G>A single nucleotide variant not provided [RCV002572406] Chr4:20539601 [GRCh38]
Chr4:20541224 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.735T>A (p.His245Gln) single nucleotide variant Inborn genetic diseases [RCV003161823]|not provided [RCV003082680] Chr4:20488942 [GRCh38]
Chr4:20490565 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2886C>G (p.Ile962Met) single nucleotide variant not provided [RCV002890874] Chr4:20567553 [GRCh38]
Chr4:20569176 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3131T>C (p.Leu1044Pro) single nucleotide variant Inborn genetic diseases [RCV002742657] Chr4:20589686 [GRCh38]
Chr4:20591309 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3561+14C>T single nucleotide variant not provided [RCV002575169] Chr4:20596669 [GRCh38]
Chr4:20598292 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4136+11G>C single nucleotide variant not provided [RCV002575067] Chr4:20617209 [GRCh38]
Chr4:20618832 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2132C>T (p.Thr711Ile) single nucleotide variant Inborn genetic diseases [RCV002827897] Chr4:20541608 [GRCh38]
Chr4:20543231 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4400G>T (p.Gly1467Val) single nucleotide variant Inborn genetic diseases [RCV002914824]|not provided [RCV002914825] Chr4:20618819 [GRCh38]
Chr4:20620442 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2332C>T (p.His778Tyr) single nucleotide variant not provided [RCV002932759] Chr4:20546086 [GRCh38]
Chr4:20547709 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4137-13C>T single nucleotide variant not provided [RCV003024778] Chr4:20617426 [GRCh38]
Chr4:20619049 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3908G>A (p.Ser1303Asn) single nucleotide variant not provided [RCV003061204] Chr4:20616970 [GRCh38]
Chr4:20618593 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1688+20T>G single nucleotide variant not provided [RCV002676495] Chr4:20532078 [GRCh38]
Chr4:20533701 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1209A>T (p.Leu403=) single nucleotide variant not provided [RCV003087272] Chr4:20523838 [GRCh38]
Chr4:20525461 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3309C>T (p.Pro1103=) single nucleotide variant SLIT2-related condition [RCV003943730]|not provided [RCV003062750] Chr4:20595823 [GRCh38]
Chr4:20597446 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2143+15T>C single nucleotide variant not provided [RCV002649821] Chr4:20541634 [GRCh38]
Chr4:20543257 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4566C>T (p.Cys1522=) single nucleotide variant not provided [RCV002599336] Chr4:20618985 [GRCh38]
Chr4:20620608 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3262G>A (p.Gly1088Arg) single nucleotide variant Inborn genetic diseases [RCV002898212] Chr4:20595776 [GRCh38]
Chr4:20597399 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3868G>A (p.Val1290Met) single nucleotide variant Inborn genetic diseases [RCV002895990]|not provided [RCV003546906] Chr4:20616930 [GRCh38]
Chr4:20618553 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.278C>T (p.Thr93Ile) single nucleotide variant not provided [RCV002579154] Chr4:20257894 [GRCh38]
Chr4:20259517 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3204C>T (p.Tyr1068=) single nucleotide variant SLIT2-related condition [RCV003953873]|not provided [RCV003087493] Chr4:20595718 [GRCh38]
Chr4:20597341 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3948G>A (p.Glu1316=) single nucleotide variant not provided [RCV003027625] Chr4:20617010 [GRCh38]
Chr4:20618633 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3316T>C (p.Tyr1106His) single nucleotide variant not provided [RCV002895934] Chr4:20595830 [GRCh38]
Chr4:20597453 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1429C>T (p.Arg477Cys) single nucleotide variant Inborn genetic diseases [RCV002832335] Chr4:20524168 [GRCh38]
Chr4:20525791 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4253C>A (p.Ala1418Glu) single nucleotide variant not provided [RCV002900599] Chr4:20617555 [GRCh38]
Chr4:20619178 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2142C>T (p.Asp714=) single nucleotide variant SLIT2-related condition [RCV003961219]|not provided [RCV002937885] Chr4:20541618 [GRCh38]
Chr4:20543241 [GRCh37]
Chr4:4p15.31
likely benign|uncertain significance
NM_004787.4(SLIT2):c.3042C>T (p.Val1014=) single nucleotide variant not provided [RCV002938365] Chr4:20568958 [GRCh38]
Chr4:20570581 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4507T>C (p.Ser1503Pro) single nucleotide variant Inborn genetic diseases [RCV002669229] Chr4:20618926 [GRCh38]
Chr4:20620549 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3362G>A (p.Arg1121His) single nucleotide variant Inborn genetic diseases [RCV002723491] Chr4:20596456 [GRCh38]
Chr4:20598079 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2825G>A (p.Arg942Gln) single nucleotide variant Inborn genetic diseases [RCV002724324] Chr4:20567361 [GRCh38]
Chr4:20568984 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.983G>A (p.Arg328Gln) single nucleotide variant not provided [RCV002609735] Chr4:20510563 [GRCh38]
Chr4:20512186 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2212G>A (p.Val738Ile) single nucleotide variant not provided [RCV002585450] Chr4:20542562 [GRCh38]
Chr4:20544185 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3201G>T (p.Gly1067=) single nucleotide variant not provided [RCV003067499] Chr4:20595715 [GRCh38]
Chr4:20597338 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4349-19G>A single nucleotide variant not provided [RCV002589041] Chr4:20618749 [GRCh38]
Chr4:20620372 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.776-14T>A single nucleotide variant not provided [RCV002587564] Chr4:20491747 [GRCh38]
Chr4:20493370 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.782A>G (p.Gln261Arg) single nucleotide variant Inborn genetic diseases [RCV003297701] Chr4:20491767 [GRCh38]
Chr4:20493390 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2400G>T (p.Met800Ile) single nucleotide variant Inborn genetic diseases [RCV003175681] Chr4:20548542 [GRCh38]
Chr4:20550165 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2912C>T (p.Thr971Ile) single nucleotide variant Inborn genetic diseases [RCV003199649] Chr4:20567579 [GRCh38]
Chr4:20569202 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3415A>G (p.Arg1139Gly) single nucleotide variant Inborn genetic diseases [RCV003178206] Chr4:20596509 [GRCh38]
Chr4:20598132 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2185A>G (p.Thr729Ala) single nucleotide variant Inborn genetic diseases [RCV003213449] Chr4:20542535 [GRCh38]
Chr4:20544158 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1933G>C (p.Val645Leu) single nucleotide variant Inborn genetic diseases [RCV003283643]|not provided [RCV003575073] Chr4:20539541 [GRCh38]
Chr4:20541164 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2893C>T (p.Pro965Ser) single nucleotide variant Inborn genetic diseases [RCV003286545] Chr4:20567560 [GRCh38]
Chr4:20569183 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13
pathogenic
NM_004787.4(SLIT2):c.2579C>G (p.Pro860Arg) single nucleotide variant Inborn genetic diseases [RCV003374115] Chr4:20553822 [GRCh38]
Chr4:20555445 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.104C>T (p.Ser35Leu) single nucleotide variant SLIT2-related condition [RCV003418855] Chr4:20253919 [GRCh38]
Chr4:20255542 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1 copy number loss not provided [RCV003485415] Chr4:12238766..23083496 [GRCh37]
Chr4:4p15.33-15.2
likely pathogenic
NM_004787.4(SLIT2):c.486G>C (p.Gln162His) single nucleotide variant SLIT2-related condition [RCV003402684] Chr4:20480734 [GRCh38]
Chr4:20482357 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh37/hg19 4p15.31(chr4:19242239-20475165)x3 copy number gain not provided [RCV003484172] Chr4:19242239..20475165 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2748A>G (p.Leu916=) single nucleotide variant not provided [RCV003434987] Chr4:20567284 [GRCh38]
Chr4:20568907 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2457C>T (p.Arg819=) single nucleotide variant not provided [RCV003434986] Chr4:20549096 [GRCh38]
Chr4:20550719 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3088+81G>A single nucleotide variant not provided [RCV003439276] Chr4:20569085 [GRCh38]
Chr4:20570708 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.1505C>T (p.Ala502Val) single nucleotide variant SLIT2-related condition [RCV003408739]|not provided [RCV003778294] Chr4:20528991 [GRCh38]
Chr4:20530614 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.260T>G (p.Met87Arg) single nucleotide variant SLIT2-related condition [RCV003397595] Chr4:20257876 [GRCh38]
Chr4:20259499 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2519T>C (p.Val840Ala) single nucleotide variant SLIT2-related condition [RCV003406067] Chr4:20550856 [GRCh38]
Chr4:20552479 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2561+15T>A single nucleotide variant not provided [RCV003882533] Chr4:20550913 [GRCh38]
Chr4:20552536 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.2143+6A>T single nucleotide variant not provided [RCV003545935] Chr4:20541625 [GRCh38]
Chr4:20543248 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1819A>C (p.Ser607Arg) single nucleotide variant not provided [RCV003831709] Chr4:20533702 [GRCh38]
Chr4:20535325 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2663G>T (p.Gly888Val) single nucleotide variant not provided [RCV003880574] Chr4:20553906 [GRCh38]
Chr4:20555529 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.395+12C>T single nucleotide variant not provided [RCV003662108] Chr4:20268893 [GRCh38]
Chr4:20270516 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2277-13C>A single nucleotide variant not provided [RCV003877293] Chr4:20546018 [GRCh38]
Chr4:20547641 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4422C>A (p.Thr1474=) single nucleotide variant not provided [RCV003578588] Chr4:20618841 [GRCh38]
Chr4:20620464 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1875T>C (p.Ser625=) single nucleotide variant SLIT2-related condition [RCV003908991]|not provided [RCV003577680] Chr4:20539483 [GRCh38]
Chr4:20541106 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.334A>C (p.Arg112=) single nucleotide variant not provided [RCV003714839] Chr4:20268820 [GRCh38]
Chr4:20270443 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.833C>T (p.Thr278Ile) single nucleotide variant not provided [RCV003661593] Chr4:20491818 [GRCh38]
Chr4:20493441 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.376A>T (p.Thr126Ser) single nucleotide variant not provided [RCV003572586] Chr4:20268862 [GRCh38]
Chr4:20270485 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3180C>T (p.Phe1060=) single nucleotide variant not provided [RCV003882279] Chr4:20589735 [GRCh38]
Chr4:20591358 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3355C>T (p.Leu1119Phe) single nucleotide variant not provided [RCV003738895] Chr4:20596449 [GRCh38]
Chr4:20598072 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.683C>G (p.Pro228Arg) single nucleotide variant not provided [RCV003544819] Chr4:20488890 [GRCh38]
Chr4:20490513 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3183-13C>T single nucleotide variant not provided [RCV003811911] Chr4:20595684 [GRCh38]
Chr4:20597307 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.987-8A>C single nucleotide variant not provided [RCV003726679] Chr4:20511058 [GRCh38]
Chr4:20512681 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.377C>T (p.Thr126Ile) single nucleotide variant not provided [RCV003856057] Chr4:20268863 [GRCh38]
Chr4:20270486 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1616G>A (p.Arg539His) single nucleotide variant not provided [RCV003726817] Chr4:20531986 [GRCh38]
Chr4:20533609 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1977-13C>G single nucleotide variant not provided [RCV003811836] Chr4:20541440 [GRCh38]
Chr4:20543063 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.936C>A (p.Ile312=) single nucleotide variant not provided [RCV003856767] Chr4:20510516 [GRCh38]
Chr4:20512139 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.539+13A>G single nucleotide variant not provided [RCV003855199] Chr4:20480800 [GRCh38]
Chr4:20482423 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3321-17T>A single nucleotide variant not provided [RCV003667110] Chr4:20596398 [GRCh38]
Chr4:20598021 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.126C>G (p.His42Gln) single nucleotide variant not provided [RCV003671836] Chr4:20253941 [GRCh38]
Chr4:20255564 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.4289G>A (p.Gly1430Asp) single nucleotide variant not provided [RCV003724984] Chr4:20617591 [GRCh38]
Chr4:20619214 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.324-14T>C single nucleotide variant not provided [RCV003833759] Chr4:20268796 [GRCh38]
Chr4:20270419 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.251+14C>T single nucleotide variant not provided [RCV003814863] Chr4:20256757 [GRCh38]
Chr4:20258380 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1638C>T (p.Thr546=) single nucleotide variant not provided [RCV003724864] Chr4:20532008 [GRCh38]
Chr4:20533631 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4296G>T (p.Gly1432=) single nucleotide variant not provided [RCV003813902] Chr4:20617598 [GRCh38]
Chr4:20619221 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.919T>C (p.Leu307=) single nucleotide variant SLIT2-related condition [RCV003946749]|not provided [RCV003566637] Chr4:20510499 [GRCh38]
Chr4:20512122 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2058G>A (p.Thr686=) single nucleotide variant not provided [RCV003818316] Chr4:20541534 [GRCh38]
Chr4:20543157 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1233C>T (p.Ile411=) single nucleotide variant SLIT2-related condition [RCV003948995]|not provided [RCV003734133] Chr4:20523862 [GRCh38]
Chr4:20525485 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3711T>C (p.Asp1237=) single nucleotide variant not provided [RCV003858060] Chr4:20610031 [GRCh38]
Chr4:20611654 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3621G>A (p.Ala1207=) single nucleotide variant not provided [RCV003568635] Chr4:20598324 [GRCh38]
Chr4:20599947 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3043G>A (p.Asp1015Asn) single nucleotide variant not provided [RCV003841849] Chr4:20568959 [GRCh38]
Chr4:20570582 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.776-10T>A single nucleotide variant not provided [RCV003709874] Chr4:20491751 [GRCh38]
Chr4:20493374 [GRCh37]
Chr4:4p15.31
likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
NM_004787.4(SLIT2):c.1347G>A (p.Pro449=) single nucleotide variant not provided [RCV003674975] Chr4:20524086 [GRCh38]
Chr4:20525709 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3289G>A (p.Gly1097Ser) single nucleotide variant not provided [RCV003551290] Chr4:20595803 [GRCh38]
Chr4:20597426 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2144-13C>A single nucleotide variant not provided [RCV003563265] Chr4:20542481 [GRCh38]
Chr4:20544104 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1614-7T>A single nucleotide variant not provided [RCV003722660] Chr4:20531977 [GRCh38]
Chr4:20533600 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.226G>C (p.Ala76Pro) single nucleotide variant not provided [RCV003684229] Chr4:20256718 [GRCh38]
Chr4:20258341 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.468G>A (p.Leu156=) single nucleotide variant not provided [RCV003870147] Chr4:20480716 [GRCh38]
Chr4:20482339 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2750C>T (p.Ala917Val) single nucleotide variant not provided [RCV003847954] Chr4:20567286 [GRCh38]
Chr4:20568909 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1614-7T>C single nucleotide variant not provided [RCV003719664] Chr4:20531977 [GRCh38]
Chr4:20533600 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4465G>A (p.Gly1489Arg) single nucleotide variant not provided [RCV003864477] Chr4:20618884 [GRCh38]
Chr4:20620507 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1731A>G (p.Ala577=) single nucleotide variant not provided [RCV003556840] Chr4:20533614 [GRCh38]
Chr4:20535237 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.4413C>T (p.Cys1471=) single nucleotide variant not provided [RCV003844319] Chr4:20618832 [GRCh38]
Chr4:20620455 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3556C>T (p.Leu1186Phe) single nucleotide variant not provided [RCV003554524] Chr4:20596650 [GRCh38]
Chr4:20598273 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3636G>A (p.Arg1212=) single nucleotide variant not provided [RCV003847965] Chr4:20598339 [GRCh38]
Chr4:20599962 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1468G>A (p.Glu490Lys) single nucleotide variant not provided [RCV003563502] Chr4:20528954 [GRCh38]
Chr4:20530577 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.1715A>G (p.Asp572Gly) single nucleotide variant not provided [RCV003861540] Chr4:20533598 [GRCh38]
Chr4:20535221 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.2251G>C (p.Gly751Arg) single nucleotide variant not provided [RCV003819755] Chr4:20542601 [GRCh38]
Chr4:20544224 [GRCh37]
Chr4:4p15.31
uncertain significance
NM_004787.4(SLIT2):c.3692+19C>T single nucleotide variant not provided [RCV003708202] Chr4:20598414 [GRCh38]
Chr4:20600037 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2700T>C (p.Thr900=) single nucleotide variant SLIT2-related condition [RCV003912325] Chr4:20553943 [GRCh38]
Chr4:20555566 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3592C>T (p.Leu1198=) single nucleotide variant SLIT2-related condition [RCV003971687] Chr4:20598295 [GRCh38]
Chr4:20599918 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.1065C>T (p.Leu355=) single nucleotide variant SLIT2-related condition [RCV003983609] Chr4:20519388 [GRCh38]
Chr4:20521011 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3234C>T (p.Asp1078=) single nucleotide variant SLIT2-related condition [RCV003896751] Chr4:20595748 [GRCh38]
Chr4:20597371 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2767C>T (p.Leu923=) single nucleotide variant SLIT2-related condition [RCV003898995] Chr4:20567303 [GRCh38]
Chr4:20568926 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.*10C>T single nucleotide variant SLIT2-related condition [RCV003906770] Chr4:20619019 [GRCh38]
Chr4:20620642 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3669T>C (p.Ser1223=) single nucleotide variant SLIT2-related condition [RCV003894080] Chr4:20598372 [GRCh38]
Chr4:20599995 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2547T>C (p.Ser849=) single nucleotide variant SLIT2-related condition [RCV003972124] Chr4:20550884 [GRCh38]
Chr4:20552507 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2172T>G (p.Leu724=) single nucleotide variant SLIT2-related condition [RCV003966864] Chr4:20542522 [GRCh38]
Chr4:20544145 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3219C>T (p.Cys1073=) single nucleotide variant SLIT2-related condition [RCV003959468] Chr4:20595733 [GRCh38]
Chr4:20597356 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.57C>A (p.Ile19=) single nucleotide variant SLIT2-related condition [RCV003899708] Chr4:20253872 [GRCh38]
Chr4:20255495 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.3171A>G (p.Pro1057=) single nucleotide variant SLIT2-related condition [RCV003959859] Chr4:20589726 [GRCh38]
Chr4:20591349 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.612-10T>C single nucleotide variant SLIT2-related condition [RCV003954742] Chr4:20488809 [GRCh38]
Chr4:20490432 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.2850+3A>C single nucleotide variant SLIT2-related condition [RCV003894063] Chr4:20567389 [GRCh38]
Chr4:20569012 [GRCh37]
Chr4:4p15.31
likely benign
NM_004787.4(SLIT2):c.776-967G>T single nucleotide variant SLIT2-related condition [RCV003979694] Chr4:20490794 [GRCh38]
Chr4:20492417 [GRCh37]
Chr4:4p15.31
benign
NM_004787.4(SLIT2):c.2678C>A (p.Ala893Glu) single nucleotide variant Inborn genetic diseases [RCV003378655] Chr4:20553921 [GRCh38]
Chr4:20555544 [GRCh37]
Chr4:4p15.31
uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14
pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12
pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1559
Count of miRNA genes:787
Interacting mature miRNAs:914
Transcripts:ENST00000273739, ENST00000503823, ENST00000503837, ENST00000504154, ENST00000508541, ENST00000508824, ENST00000509099, ENST00000509394, ENST00000509941, ENST00000511508, ENST00000512993
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.

Markers in Region
SHGC-50605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,335,504 - 20,335,632UniSTSGRCh37
Build 36419,944,602 - 19,944,730RGDNCBI36
Celera420,792,604 - 20,792,732RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,684,429 - 19,684,557UniSTS
TNG Radiation Hybrid Map413069.0UniSTS
G34229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,301,322 - 20,301,469UniSTSGRCh37
Build 36419,910,420 - 19,910,567RGDNCBI36
Celera420,758,422 - 20,758,569RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,650,256 - 19,650,403UniSTS
SHGC-50557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,442,483 - 20,442,621UniSTSGRCh37
Build 36420,051,581 - 20,051,719RGDNCBI36
Celera420,898,975 - 20,899,113RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,791,401 - 19,791,539UniSTS
SHGC-67708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,321,229 - 20,321,410UniSTSGRCh37
Build 36419,930,327 - 19,930,508RGDNCBI36
Celera420,778,329 - 20,778,510RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,670,177 - 19,670,358UniSTS
GeneMap99-GB4 RH Map485.73UniSTS
D4S3124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,414,417 - 20,414,537UniSTSGRCh37
Build 36420,023,515 - 20,023,635RGDNCBI36
Celera420,870,909 - 20,871,029RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,763,336 - 19,763,456UniSTS
SHGC-50719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,414,208 - 20,414,537UniSTSGRCh37
Build 36420,023,306 - 20,023,635RGDNCBI36
Celera420,870,700 - 20,871,029RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,763,127 - 19,763,456UniSTS
TNG Radiation Hybrid Map413119.0UniSTS
D4S2611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,335,425 - 20,335,584UniSTSGRCh37
Build 36419,944,523 - 19,944,682RGDNCBI36
Celera420,792,525 - 20,792,684RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,684,350 - 19,684,509UniSTS
Stanford-G3 RH Map41214.0UniSTS
Whitehead-RH Map497.9UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4224.5UniSTS
D4S544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,433,493 - 20,433,755UniSTSGRCh37
Build 36420,042,591 - 20,042,853RGDNCBI36
Celera420,889,985 - 20,890,247RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,782,412 - 19,782,674UniSTS
Stanford-G3 RH Map41221.0UniSTS
NCBI RH Map4226.5UniSTS
G34103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,323,020 - 20,323,182UniSTSGRCh37
Build 36419,932,118 - 19,932,280RGDNCBI36
Celera420,780,119 - 20,780,281RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,671,968 - 19,672,130UniSTS
SHGC-51362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,433,507 - 20,433,725UniSTSGRCh37
Build 36420,042,605 - 20,042,823RGDNCBI36
Celera420,889,999 - 20,890,217RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,782,426 - 19,782,644UniSTS
TNG Radiation Hybrid Map413142.0UniSTS
D4S331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,338,524 - 20,338,676UniSTSGRCh37
Build 36419,947,622 - 19,947,774RGDNCBI36
Celera420,795,625 - 20,795,777RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,687,449 - 19,687,601UniSTS
TNG Radiation Hybrid Map413077.0UniSTS
RH102649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,394,996 - 20,395,258UniSTSGRCh37
Build 36420,004,094 - 20,004,356RGDNCBI36
Celera420,851,488 - 20,851,750RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,743,913 - 19,744,175UniSTS
GeneMap99-GB4 RH Map485.73UniSTS
SHGC-149242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,446,762 - 20,447,105UniSTSGRCh37
Build 36420,055,860 - 20,056,203RGDNCBI36
Celera420,903,254 - 20,903,597RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,795,680 - 19,796,023UniSTS
TNG Radiation Hybrid Map413154.0UniSTS
SHGC-149436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,506,098 - 20,506,414UniSTSGRCh37
Build 36420,115,196 - 20,115,512RGDNCBI36
Celera420,962,591 - 20,962,907RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,855,027 - 19,855,343UniSTS
TNG Radiation Hybrid Map413158.0UniSTS
SLIT2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,620,534 - 20,620,602UniSTSGRCh37
Build 36420,229,632 - 20,229,700RGDNCBI36
Celera421,077,037 - 21,077,105RGD
HuRef419,969,260 - 19,969,328UniSTS
D4S1063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,322,879 - 20,323,135UniSTSGRCh37
Build 36419,931,977 - 19,932,233RGDNCBI36
Celera420,779,978 - 20,780,234RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,671,827 - 19,672,083UniSTS
TNG Radiation Hybrid Map413016.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
STS-R78732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,620,506 - 20,620,644UniSTSGRCh37
Build 36420,229,604 - 20,229,742RGDNCBI36
Celera421,077,009 - 21,077,147RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,969,232 - 19,969,370UniSTS
TNG Radiation Hybrid Map413187.0UniSTS
GeneMap99-GB4 RH Map487.77UniSTS
NCBI RH Map4245.2UniSTS
D4S1372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,301,449 - 20,301,613UniSTSGRCh37
Build 36419,910,547 - 19,910,711RGDNCBI36
Celera420,758,549 - 20,758,713RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,650,383 - 19,650,547UniSTS
D4S279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,320,366 - 20,320,617UniSTSGRCh37
Build 36419,929,464 - 19,929,715RGDNCBI36
Celera420,777,466 - 20,777,717RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,669,314 - 19,669,565UniSTS
TNG Radiation Hybrid Map413012.0UniSTS
Stanford-G3 RH Map41217.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4225.5UniSTS
D4S2742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,357,124 - 20,357,299UniSTSGRCh37
Build 36419,966,222 - 19,966,397RGDNCBI36
Celera420,813,640 - 20,813,815RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,706,044 - 19,706,219UniSTS
TNG Radiation Hybrid Map413044.0UniSTS
SHGC-24805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,442,502 - 20,442,651UniSTSGRCh37
Build 36420,051,600 - 20,051,749RGDNCBI36
Celera420,898,994 - 20,899,143RGD
Cytogenetic Map4p15.2UniSTS
HuRef419,791,420 - 19,791,569UniSTS
Stanford-G3 RH Map41225.0UniSTS
GeneMap99-GB4 RH Map485.73UniSTS
Whitehead-RH Map497.9UniSTS
NCBI RH Map4227.6UniSTS
GeneMap99-G3 RH Map41209.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1571 1038 785 55 237 9 1407 917 1049 114 633 1147 47 487 1061 1
Low 740 1177 722 360 337 246 2872 1203 2337 267 778 395 120 717 1676 2
Below cutoff 47 673 206 200 717 202 70 68 333 29 33 42 3 1 51 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA489463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB017168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF133270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF112143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI494498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM474839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV370469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA721496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB207352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000273739   ⟹   ENSP00000273739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,253,590 - 20,619,286 (+)Ensembl
RefSeq Acc Id: ENST00000503823   ⟹   ENSP00000427548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,253,260 - 20,619,120 (+)Ensembl
RefSeq Acc Id: ENST00000503837   ⟹   ENSP00000422261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,253,816 - 20,619,183 (+)Ensembl
RefSeq Acc Id: ENST00000504154   ⟹   ENSP00000422591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,251,905 - 20,620,561 (+)Ensembl
RefSeq Acc Id: ENST00000508541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,614,863 - 20,619,166 (+)Ensembl
RefSeq Acc Id: ENST00000508824   ⟹   ENSP00000426356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,254,920 - 20,486,215 (+)Ensembl
RefSeq Acc Id: ENST00000509099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,533,399 - 20,539,566 (+)Ensembl
RefSeq Acc Id: ENST00000509394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,542,494 - 20,552,721 (+)Ensembl
RefSeq Acc Id: ENST00000509941   ⟹   ENSP00000425609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,553,853 - 20,569,264 (+)Ensembl
RefSeq Acc Id: ENST00000511508   ⟹   ENSP00000421975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,542,619 - 20,568,918 (+)Ensembl
RefSeq Acc Id: ENST00000512993   ⟹   ENSP00000423179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,598,353 - 20,620,561 (+)Ensembl
RefSeq Acc Id: ENST00000622093   ⟹   ENSP00000482129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl420,253,564 - 20,620,559 (+)Ensembl
RefSeq Acc Id: NM_001289135   ⟹   NP_001276064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38420,251,905 - 20,620,561 (+)NCBI
HuRef419,604,151 - 19,970,910 (+)NCBI
CHM1_1420,251,569 - 20,620,129 (+)NCBI
T2T-CHM13v2.0420,234,597 - 20,602,238 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289136   ⟹   NP_001276065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38420,251,905 - 20,620,561 (+)NCBI
HuRef419,604,151 - 19,970,910 (+)NCBI
CHM1_1420,251,569 - 20,620,129 (+)NCBI
T2T-CHM13v2.0420,234,597 - 20,602,238 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004787   ⟹   NP_004778
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38420,251,905 - 20,620,561 (+)NCBI
GRCh37420,254,566 - 20,622,184 (+)NCBI
Build 36419,864,333 - 20,229,886 (+)NCBI Archive
HuRef419,604,151 - 19,970,910 (+)NCBI
CHM1_1420,251,569 - 20,620,129 (+)NCBI
T2T-CHM13v2.0420,234,597 - 20,602,238 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248211   ⟹   XP_005248268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38420,251,905 - 20,620,561 (+)NCBI
GRCh37420,254,566 - 20,622,184 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713986   ⟹   XP_006714049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38420,251,905 - 20,620,561 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513909   ⟹   XP_011512211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38420,254,233 - 20,620,561 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513910   ⟹   XP_011512212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38420,520,088 - 20,620,561 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008845   ⟹   XP_016864334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38420,254,233 - 20,620,561 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054351262   ⟹   XP_054207237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0420,234,597 - 20,602,238 (+)NCBI
RefSeq Acc Id: XM_054351263   ⟹   XP_054207238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0420,234,597 - 20,602,238 (+)NCBI
RefSeq Acc Id: XM_054351264   ⟹   XP_054207239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0420,236,952 - 20,602,238 (+)NCBI
RefSeq Acc Id: XM_054351265   ⟹   XP_054207240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0420,236,953 - 20,602,238 (+)NCBI
RefSeq Acc Id: XM_054351266   ⟹   XP_054207241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0420,501,782 - 20,602,238 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001276064 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276065 (Get FASTA)   NCBI Sequence Viewer  
  NP_004778 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248268 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714049 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512211 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512212 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864334 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207237 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207238 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207239 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207240 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207241 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD04309 (Get FASTA)   NCBI Sequence Viewer  
  AAD25539 (Get FASTA)   NCBI Sequence Viewer  
  AAI17191 (Get FASTA)   NCBI Sequence Viewer  
  AAI43979 (Get FASTA)   NCBI Sequence Viewer  
  AAY41008 (Get FASTA)   NCBI Sequence Viewer  
  AAY41010 (Get FASTA)   NCBI Sequence Viewer  
  BAA35185 (Get FASTA)   NCBI Sequence Viewer  
  BAG51304 (Get FASTA)   NCBI Sequence Viewer  
  EAW92792 (Get FASTA)   NCBI Sequence Viewer  
  EAW92793 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000273739
  ENSP00000273739.5
  ENSP00000421975.1
  ENSP00000422261
  ENSP00000422261.1
  ENSP00000422591
  ENSP00000422591.1
  ENSP00000423179.1
  ENSP00000425609.1
  ENSP00000426356.1
  ENSP00000427548
  ENSP00000427548.1
  ENSP00000482129
  ENSP00000482129.1
GenBank Protein O94813 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004778   ⟸   NM_004787
- Peptide Label: isoform 1 precursor
- UniProtKB: Q17RU3 (UniProtKB/Swiss-Prot),   O95710 (UniProtKB/Swiss-Prot),   B7ZLR5 (UniProtKB/Swiss-Prot),   A0A0A6YYB8 (UniProtKB/Swiss-Prot),   Q9Y5Q7 (UniProtKB/Swiss-Prot),   O94813 (UniProtKB/Swiss-Prot),   X6R3P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248268   ⟸   XM_005248211
- Peptide Label: isoform X1
- UniProtKB: X6R3P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276064   ⟸   NM_001289135
- Peptide Label: isoform 2 precursor
- UniProtKB: X6R3P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276065   ⟸   NM_001289136
- Peptide Label: isoform 3 precursor
- UniProtKB: X6R3P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714049   ⟸   XM_006713986
- Peptide Label: isoform X2
- UniProtKB: X6R3P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512211   ⟸   XM_011513909
- Peptide Label: isoform X3
- UniProtKB: X6R3P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512212   ⟸   XM_011513910
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016864334   ⟸   XM_017008845
- Peptide Label: isoform X4
- UniProtKB: X6R3P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000427548   ⟸   ENST00000503823
RefSeq Acc Id: ENSP00000422261   ⟸   ENST00000503837
RefSeq Acc Id: ENSP00000422591   ⟸   ENST00000504154
RefSeq Acc Id: ENSP00000482129   ⟸   ENST00000622093
RefSeq Acc Id: ENSP00000426356   ⟸   ENST00000508824
RefSeq Acc Id: ENSP00000425609   ⟸   ENST00000509941
RefSeq Acc Id: ENSP00000273739   ⟸   ENST00000273739
RefSeq Acc Id: ENSP00000421975   ⟸   ENST00000511508
RefSeq Acc Id: ENSP00000423179   ⟸   ENST00000512993
RefSeq Acc Id: XP_054207237   ⟸   XM_054351262
- Peptide Label: isoform X1
- UniProtKB: X6R3P0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207238   ⟸   XM_054351263
- Peptide Label: isoform X2
- UniProtKB: X6R3P0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207239   ⟸   XM_054351264
- Peptide Label: isoform X3
- UniProtKB: X6R3P0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207240   ⟸   XM_054351265
- Peptide Label: isoform X4
- UniProtKB: X6R3P0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207241   ⟸   XM_054351266
- Peptide Label: isoform X5
Protein Domains
CTCK   EGF-like   Laminin G   Laminin G-like   LRRCT   LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O94813-F1-model_v2 AlphaFold O94813 1-1529 view protein structure

Promoters
RGD ID:6814731
Promoter ID:HG_XEF:5839
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_178804
Position:
Human AssemblyChrPosition (strand)Source
Build 36419,862,431 - 19,862,931 (+)MPROMDB
RGD ID:6867108
Promoter ID:EPDNEW_H6719
Type:multiple initiation site
Name:SLIT2_1
Description:slit guidance ligand 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6720  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38420,252,890 - 20,252,950EPDNEW
RGD ID:6867170
Promoter ID:EPDNEW_H6720
Type:initiation region
Name:SLIT2_2
Description:slit guidance ligand 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6719  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38420,253,209 - 20,253,269EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11086 AgrOrtholog
COSMIC SLIT2 COSMIC
Ensembl Genes ENSG00000145147 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000273739 ENTREZGENE
  ENST00000273739.9 UniProtKB/TrEMBL
  ENST00000503823 ENTREZGENE
  ENST00000503823.5 UniProtKB/Swiss-Prot
  ENST00000503837 ENTREZGENE
  ENST00000503837.5 UniProtKB/Swiss-Prot
  ENST00000504154 ENTREZGENE
  ENST00000504154.6 UniProtKB/Swiss-Prot
  ENST00000508824.1 UniProtKB/TrEMBL
  ENST00000509941.1 UniProtKB/TrEMBL
  ENST00000511508.5 UniProtKB/TrEMBL
  ENST00000512993.1 UniProtKB/TrEMBL
  ENST00000622093 ENTREZGENE
  ENST00000622093.4 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145147 GTEx
HGNC ID HGNC:11086 ENTREZGENE
Human Proteome Map SLIT2 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  Cys-rich_flank_reg_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cys_knot_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_CS UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/TrEMBL
  EGF-like_reg_CS UniProtKB/Swiss-Prot
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fol_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L_dom-like UniProtKB/Swiss-Prot
  Laminin_G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR-contain_N UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/TrEMBL
  LRRNT UniProtKB/TrEMBL
KEGG Report hsa:9353 UniProtKB/Swiss-Prot
NCBI Gene 9353 ENTREZGENE
OMIM 603746 OMIM
PANTHER ANTIGEN BSP, PUTATIVE-RELATED UniProtKB/TrEMBL
  IG(IMMUNOGLOBULIN) AND LRR(LEUCINE RICH REPEAT) DOMAINS UniProtKB/TrEMBL
  LEUCINE-RICH REPEAT-CONTAINING 53 UniProtKB/TrEMBL
  LRRCT DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN SLIT UniProtKB/TrEMBL
  SLIT HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLIT HOMOLOG 1B (DROSOPHILA) UniProtKB/TrEMBL
  SLIT HOMOLOG 2 PROTEIN UniProtKB/TrEMBL
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35939 PharmGKB
PRINTS EGFBLOOD UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTCK_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTCK_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAM_G_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FOLN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_SD22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00041 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP ConA_like_lec_gl UniProtKB/Swiss-Prot
  EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/TrEMBL
UniProt A0A087WYV5_HUMAN UniProtKB/TrEMBL
  A0A0A6YYB8 ENTREZGENE
  B7ZLR5 ENTREZGENE
  E9PCX4_HUMAN UniProtKB/TrEMBL
  F5H0U4_HUMAN UniProtKB/TrEMBL
  H0Y968_HUMAN UniProtKB/TrEMBL
  H0Y9Z6_HUMAN UniProtKB/TrEMBL
  O94813 ENTREZGENE
  O95710 ENTREZGENE
  Q17RU3 ENTREZGENE
  Q4W5K2_HUMAN UniProtKB/TrEMBL
  Q4W5N0_HUMAN UniProtKB/TrEMBL
  Q9Y5Q7 ENTREZGENE
  SLIT2_HUMAN UniProtKB/Swiss-Prot
  X6R3P0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A0A6YYB8 UniProtKB/Swiss-Prot
  B7ZLR5 UniProtKB/Swiss-Prot
  O95710 UniProtKB/Swiss-Prot
  Q17RU3 UniProtKB/Swiss-Prot
  Q9Y5Q7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-30 SLIT2  slit guidance ligand 2    slit homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED