SORL1 (sortilin related receptor 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SORL1 (sortilin related receptor 1) Homo sapiens
Analyze
Symbol: SORL1
Name: sortilin related receptor 1
RGD ID: 1322123
HGNC Page HGNC:11185
Description: Enables several functions, including low-density lipoprotein particle binding activity; peptide binding activity; and small GTPase binding activity. Involved in several processes, including negative regulation of amyloid precursor protein catabolic process; positive regulation of intracellular transport; and protein localization to organelle. Located in several cellular components, including Golgi apparatus subcompartment; endosome; and nuclear envelope lumen. Implicated in Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C11orf32; chromosome 11 open reading frame 32; FLJ21930; FLJ39258; gp250; LDLR relative with 11 ligand-binding repeats; low-density lipoprotein receptor relative with 11 ligand-binding repeats; LR11; LRP9; mosaic protein LR11; SORLA; SorLA-1; sortilin-related receptor; sortilin-related receptor containing LDLR class A repeats; sortilin-related receptor, L(DLR class) A repeats containing; sortilin-related receptor, L(DLR class) A repeats-containing; sorting protein-related receptor containing LDLR class A repeats
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
NCBI Annotation Information: Note: In some of the published literature, this gene has been incorrectly associated with the LRP9 alias, but the LRP9 alias more correctly refers to Gene ID 26020, LRP10. [05 May 2010]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811121,452,314 - 121,633,763 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11121,452,314 - 121,633,763 (+)EnsemblGRCh38hg38GRCh38
GRCh3711121,323,023 - 121,504,472 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611120,828,130 - 121,005,621 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411120,828,129 - 121,005,610NCBI
Celera11118,482,367 - 118,662,804 (+)NCBICelera
Cytogenetic Map11q24.1NCBI
HuRef11117,266,146 - 117,448,320 (+)NCBIHuRef
CHM1_111121,210,607 - 121,392,157 (+)NCBICHM1_1
T2T-CHM13v2.011121,478,500 - 121,660,113 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,6-dinitrotoluene  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amitriptyline  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atazanavir sulfate  (EXP)
benzene  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chlordecone  (ISO)
chloroacetaldehyde  (EXP)
cidofovir anhydrous  (EXP)
ciglitazone  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
deoxycholic acid  (EXP)
dibutyl phthalate  (ISO)
diethyl maleate  (ISO)
dioxygen  (EXP,ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fenamidone  (ISO)
fenofibrate  (EXP,ISO)
fenvalerate  (ISO)
finasteride  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
hexaconazole  (ISO)
hydrogen peroxide  (EXP)
ibuprofen  (EXP)
indole-3-methanol  (ISO)
leflunomide  (EXP)
menadione  (EXP)
metformin  (ISO)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
pentanal  (EXP)
pentane-2,3-dione  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
propanal  (EXP)
quercitrin  (EXP)
rotenone  (EXP)
sarpogrelate  (EXP)
SB 431542  (EXP)
serotonin  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
succimer  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
tartrazine  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
topotecan  (EXP,ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adaptive thermogenesis  (IEA,ISS)
cell migration  (IEA,ISO)
cell population proliferation  (IEA,ISO)
diet induced thermogenesis  (IEA,ISS)
endocytosis  (IEA)
endosome to plasma membrane protein transport  (IEA)
insulin receptor recycling  (IDA,IEA)
negative regulation of amyloid-beta formation  (IDA,IEA,IMP)
negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process  (IDA,IEA,IMP)
negative regulation of BMP signaling pathway  (IEA,ISS)
negative regulation of MAP kinase activity  (IEA,ISS)
negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process  (IEA,IMP)
negative regulation of neurofibrillary tangle assembly  (IEA,ISS)
negative regulation of neurogenesis  (IEA,ISS)
negative regulation of neuron death  (IEA,ISS)
negative regulation of protein binding  (IDA)
negative regulation of protein-containing complex assembly  (IMP)
negative regulation of tau-protein kinase activity  (IEA,ISS)
negative regulation of triglyceride catabolic process  (IEA,ISS)
neuropeptide signaling pathway  (IDA)
positive regulation of adipose tissue development  (IDA,IEA)
positive regulation of choline O-acetyltransferase activity  (IEA,ISS)
positive regulation of early endosome to recycling endosome transport  (IMP)
positive regulation of endocytic recycling  (IMP)
positive regulation of ER to Golgi vesicle-mediated transport  (IMP)
positive regulation of glial cell-derived neurotrophic factor production  (IDA,IEA)
positive regulation of insulin receptor signaling pathway  (IDA,IEA)
positive regulation of protein catabolic process  (IDA)
positive regulation of protein exit from endoplasmic reticulum  (IMP)
positive regulation of protein localization to early endosome  (IMP)
post-Golgi vesicle-mediated transport  (IBA,IDA)
protein localization to Golgi apparatus  (IDA)
protein maturation  (IDA)
protein retention in Golgi apparatus  (IBA,IDA,IEA)
protein targeting  (IDA,IEA,IMP)
protein targeting to lysosome  (IBA,IDA)
receptor-mediated endocytosis  (IDA,TAS)
regulation of smooth muscle cell migration  (IDA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Loss of apolipoprotein E receptor LR11 in Alzheimer disease. Scherzer CR, etal., Arch Neurol. 2004 Aug;61(8):1200-5.
Additional References at PubMed
PMID:8619474   PMID:8940146   PMID:9157966   PMID:10375696   PMID:11082041   PMID:11294867   PMID:11557679   PMID:11821067   PMID:12477932   PMID:12530537   PMID:12970790   PMID:14702039  
PMID:14764453   PMID:16174740   PMID:16344560   PMID:16407538   PMID:16489755   PMID:16531402   PMID:16565469   PMID:17110338   PMID:17220890   PMID:17326667   PMID:17420311   PMID:17589324  
PMID:17721864   PMID:17826910   PMID:17855360   PMID:17949987   PMID:17975299   PMID:17978276   PMID:18063222   PMID:18090307   PMID:18093545   PMID:18407551   PMID:18541377   PMID:18562096  
PMID:18603531   PMID:18685254   PMID:18713574   PMID:18830724   PMID:18938222   PMID:19056867   PMID:19064752   PMID:19077115   PMID:19364927   PMID:19368828   PMID:19539718   PMID:19584446  
PMID:19653016   PMID:19822782   PMID:19889229   PMID:19889475   PMID:19913121   PMID:20005821   PMID:20015111   PMID:20047743   PMID:20379614   PMID:20413850   PMID:20534741   PMID:20574532  
PMID:20625269   PMID:20628086   PMID:20634593   PMID:20667857   PMID:20689279   PMID:20838585   PMID:20880607   PMID:20946940   PMID:20970138   PMID:21145461   PMID:21147781   PMID:21185108  
PMID:21206043   PMID:21220680   PMID:21385844   PMID:21730226   PMID:21873635   PMID:21989385   PMID:21994944   PMID:21997402   PMID:22044026   PMID:22127416   PMID:22268729   PMID:22279231  
PMID:22286501   PMID:22297619   PMID:22321011   PMID:22472873   PMID:22621900   PMID:22750733   PMID:22836009   PMID:22927900   PMID:22996644   PMID:23127357   PMID:23333276   PMID:23376485  
PMID:23443559   PMID:23455993   PMID:23463934   PMID:23486467   PMID:23525328   PMID:23565137   PMID:23602568   PMID:23652469   PMID:23813966   PMID:23948893   PMID:23977241   PMID:24001769  
PMID:24083537   PMID:24162737   PMID:24166411   PMID:24284991   PMID:24309291   PMID:24394293   PMID:24486888   PMID:24523320   PMID:24577511   PMID:24650663   PMID:24668473   PMID:24778252  
PMID:24859021   PMID:24938503   PMID:25365775   PMID:25382023   PMID:25443876   PMID:25450149   PMID:25482438   PMID:25525276   PMID:25598427   PMID:25609649   PMID:25643321   PMID:25659857  
PMID:25676033   PMID:25772071   PMID:25835329   PMID:25881907   PMID:26053850   PMID:26186194   PMID:26377460   PMID:26520897   PMID:26584636   PMID:26611835   PMID:26627482   PMID:26761773  
PMID:26858303   PMID:26873856   PMID:26996954   PMID:27026413   PMID:27079357   PMID:27095609   PMID:27173435   PMID:27177090   PMID:27322061   PMID:27638701   PMID:27641082   PMID:27650968  
PMID:27697674   PMID:27773727   PMID:27779372   PMID:27832290   PMID:27911290   PMID:28034305   PMID:28229235   PMID:28265003   PMID:28322202   PMID:28427149   PMID:28514442   PMID:28527213  
PMID:28537274   PMID:28595629   PMID:28634550   PMID:28675297   PMID:28789839   PMID:28799085   PMID:29036834   PMID:29114064   PMID:29376855   PMID:29499509   PMID:29567423   PMID:29927411  
PMID:29961565   PMID:30078640   PMID:30448281   PMID:30550937   PMID:30679749   PMID:30694837   PMID:30911827   PMID:31138794   PMID:31299181   PMID:31495888   PMID:31734618   PMID:31753913  
PMID:32203420   PMID:32296183   PMID:32350212   PMID:32409323   PMID:32492427   PMID:32712736   PMID:32814053   PMID:33420373   PMID:33720088   PMID:33726851   PMID:33737586   PMID:33879716  
PMID:33913039   PMID:33961781   PMID:34092641   PMID:34133918   PMID:34779857   PMID:34922638   PMID:34948429   PMID:34965280   PMID:35140242   PMID:35226190   PMID:35271311   PMID:35364126  
PMID:35456392   PMID:35457051   PMID:35464477   PMID:35563538   PMID:35761418   PMID:35905044  


Genomics

Comparative Map Data
SORL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811121,452,314 - 121,633,763 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11121,452,314 - 121,633,763 (+)EnsemblGRCh38hg38GRCh38
GRCh3711121,323,023 - 121,504,472 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611120,828,130 - 121,005,621 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411120,828,129 - 121,005,610NCBI
Celera11118,482,367 - 118,662,804 (+)NCBICelera
Cytogenetic Map11q24.1NCBI
HuRef11117,266,146 - 117,448,320 (+)NCBIHuRef
CHM1_111121,210,607 - 121,392,157 (+)NCBICHM1_1
T2T-CHM13v2.011121,478,500 - 121,660,113 (+)NCBIT2T-CHM13v2.0
Sorl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39941,876,005 - 42,035,593 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl941,876,016 - 42,035,593 (-)EnsemblGRCm39 Ensembl
GRCm38941,964,709 - 42,124,297 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl941,964,720 - 42,124,297 (-)EnsemblGRCm38mm10GRCm38
MGSCv37941,776,572 - 41,932,372 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36941,719,598 - 41,875,108 (-)NCBIMGSCv36mm8
Celera939,209,765 - 39,348,584 (-)NCBICelera
Cytogenetic Map9A5.1NCBI
Sorl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2842,341,704 - 42,504,435 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl842,341,704 - 42,504,513 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx847,834,567 - 47,997,513 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0846,113,233 - 46,276,184 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0843,980,818 - 44,143,775 (-)NCBIRnor_WKY
Rnor_6.0846,228,077 - 46,287,171 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0844,702,383 - 44,872,500 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4844,962,730 - 45,101,843 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1844,971,645 - 45,214,890 (-)NCBI
Celera841,934,828 - 42,097,222 (-)NCBICelera
Cytogenetic Map8q22NCBI
Sorl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541222,421,984 - 22,576,179 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541222,421,984 - 22,576,179 (+)NCBIChiLan1.0ChiLan1.0
SORL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111120,222,491 - 120,402,432 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11120,222,491 - 120,402,432 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011116,297,014 - 116,477,399 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SORL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1512,493,750 - 12,650,530 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl512,431,377 - 12,650,784 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha512,548,775 - 12,705,458 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0512,443,942 - 12,600,792 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl512,448,034 - 12,600,792 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1512,550,420 - 12,707,102 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0512,486,757 - 12,643,601 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0512,525,262 - 12,682,112 (-)NCBIUU_Cfam_GSD_1.0
Sorl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947103,270,998 - 103,431,426 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365426,192,407 - 6,352,835 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SORL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl948,435,345 - 48,653,655 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1948,435,350 - 48,653,670 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2953,829,728 - 53,907,627 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SORL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11112,877,052 - 113,062,167 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1112,877,151 - 113,058,050 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604313,044,662 - 13,224,435 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sorl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248803,583,838 - 3,749,930 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248803,579,783 - 3,749,958 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SORL1
269 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2901
Count of miRNA genes:1067
Interacting mature miRNAs:1297
Transcripts:ENST00000260197, ENST00000524633, ENST00000524873, ENST00000525532, ENST00000527649, ENST00000527934, ENST00000528339, ENST00000529445, ENST00000530365, ENST00000532451, ENST00000532694, ENST00000534286, ENST00000534754
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
RH12473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,504,161 - 121,504,299UniSTSGRCh37
Build 3611121,009,371 - 121,009,509RGDNCBI36
Celera11118,662,494 - 118,662,632RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,448,010 - 117,448,148UniSTS
GeneMap99-GB4 RH Map11400.28UniSTS
G19692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,504,171 - 121,504,311UniSTSGRCh37
Build 3611121,009,381 - 121,009,521RGDNCBI36
Celera11118,662,504 - 118,662,644RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,448,020 - 117,448,160UniSTS
A001V33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,504,171 - 121,504,311UniSTSGRCh37
Build 3611121,009,381 - 121,009,521RGDNCBI36
Celera11118,662,504 - 118,662,644RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,448,020 - 117,448,160UniSTS
GeneMap99-GB4 RH Map11400.55UniSTS
SHGC-83535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,481,425 - 121,481,717UniSTSGRCh37
Build 3611120,986,635 - 120,986,927RGDNCBI36
Celera11118,639,757 - 118,640,049RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,425,269 - 117,425,561UniSTS
TNG Radiation Hybrid Map1156532.0UniSTS
RH119868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,383,658 - 121,383,962UniSTSGRCh37
Build 3611120,888,868 - 120,889,172RGDNCBI36
Celera11118,541,994 - 118,542,298RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,327,508 - 117,327,812UniSTS
TNG Radiation Hybrid Map1156487.0UniSTS
RH122364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,325,343 - 121,325,652UniSTSGRCh37
Build 3611120,830,553 - 120,830,862RGDNCBI36
Celera11118,484,749 - 118,485,058RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,268,577 - 117,268,886UniSTS
SHGC-105603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,450,703 - 121,451,015UniSTSGRCh37
Build 3611120,955,913 - 120,956,225RGDNCBI36
Celera11118,609,044 - 118,609,356RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,394,556 - 117,394,868UniSTS
TNG Radiation Hybrid Map1156513.0UniSTS
SHGC-142924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,330,026 - 121,330,297UniSTSGRCh37
Build 3611120,835,236 - 120,835,507RGDNCBI36
Celera11118,489,432 - 118,489,703RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,273,260 - 117,273,531UniSTS
TNG Radiation Hybrid Map1156461.0UniSTS
RH45842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,501,830 - 121,501,992UniSTSGRCh37
Build 3611121,007,040 - 121,007,202RGDNCBI36
Celera11118,660,163 - 118,660,325RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,445,674 - 117,445,836UniSTS
GeneMap99-GB4 RH Map11401.6UniSTS
SHGC-53425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,501,574 - 121,501,766UniSTSGRCh37
Build 3611121,006,784 - 121,006,976RGDNCBI36
Celera11118,659,907 - 118,660,099RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,445,418 - 117,445,610UniSTS
TNG Radiation Hybrid Map1156555.0UniSTS
RH11765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,504,161 - 121,504,293UniSTSGRCh37
Build 3611121,009,371 - 121,009,503RGDNCBI36
Celera11118,662,494 - 118,662,626RGD
Cytogenetic Map11q23.2-q24.2UniSTS
GeneMap99-GB4 RH Map11400.28UniSTS
RH12302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,502,305 - 121,502,445UniSTSGRCh37
Build 3611121,007,515 - 121,007,655RGDNCBI36
Celera11118,660,638 - 118,660,778RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,446,154 - 117,446,294UniSTS
GeneMap99-GB4 RH Map11401.6UniSTS
T15980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,504,041 - 121,504,273UniSTSGRCh37
Build 3611121,009,251 - 121,009,483RGDNCBI36
Celera11118,662,374 - 118,662,606RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,447,890 - 117,448,122UniSTS
Whitehead-YAC Contig Map11 UniSTS
D11S2303E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,504,062 - 121,504,280UniSTSGRCh37
Build 3611121,009,272 - 121,009,490RGDNCBI36
Celera11118,662,395 - 118,662,613RGD
Cytogenetic Map11q23.2-q24.2UniSTS
HuRef11117,447,911 - 117,448,129UniSTS
GeneMap99-GB4 RH Map11403.56UniSTS
MARC_13961-13962:1007650350:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,474,990 - 121,475,930UniSTSGRCh37
Celera11118,633,323 - 118,634,262UniSTS
HuRef11117,418,835 - 117,419,774UniSTS


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 pharyngeal arch
High
Medium 574 1294 1072 472 1733 356 751 28 2644 231 688 1145 125 55 484
Low 1843 1589 636 145 172 103 2992 1466 1058 176 745 439 47 1148 1715 3
Below cutoff 16 101 16 7 43 6 611 699 30 11 19 25 1 1 1 589 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI358248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ888333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX365721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA386525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB499706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN831521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000260197   ⟹   ENSP00000260197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,452,314 - 121,633,763 (+)Ensembl
RefSeq Acc Id: ENST00000524633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,614,286 - 121,622,269 (+)Ensembl
RefSeq Acc Id: ENST00000524873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,557,015 - 121,558,773 (+)Ensembl
RefSeq Acc Id: ENST00000525532   ⟹   ENSP00000434634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,566,725 - 121,629,684 (+)Ensembl
RefSeq Acc Id: ENST00000527649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,626,201 - 121,629,693 (+)Ensembl
RefSeq Acc Id: ENST00000527934   ⟹   ENSP00000435405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,590,419 - 121,629,684 (+)Ensembl
RefSeq Acc Id: ENST00000528339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,608,200 - 121,621,240 (+)Ensembl
RefSeq Acc Id: ENST00000529445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,555,042 - 121,558,837 (+)Ensembl
RefSeq Acc Id: ENST00000530365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,628,836 - 121,632,240 (+)Ensembl
RefSeq Acc Id: ENST00000532451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,452,380 - 121,547,024 (+)Ensembl
RefSeq Acc Id: ENST00000532694   ⟹   ENSP00000432131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,576,760 - 121,629,691 (+)Ensembl
RefSeq Acc Id: ENST00000534286   ⟹   ENSP00000436447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,576,838 - 121,629,678 (+)Ensembl
RefSeq Acc Id: ENST00000534754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11121,611,252 - 121,621,234 (+)Ensembl
RefSeq Acc Id: NM_003105   ⟹   NP_003096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811121,452,314 - 121,633,763 (+)NCBI
GRCh3711121,322,912 - 121,504,471 (+)ENTREZGENE
Build 3611120,828,130 - 121,005,621 (+)NCBI Archive
HuRef11117,266,146 - 117,448,320 (+)ENTREZGENE
CHM1_111121,210,607 - 121,392,157 (+)NCBI
T2T-CHM13v2.011121,478,500 - 121,660,113 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003096   ⟸   NM_003105
- Peptide Label: preproprotein
- UniProtKB: Q92856 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000432131   ⟸   ENST00000532694
RefSeq Acc Id: ENSP00000436447   ⟸   ENST00000534286
RefSeq Acc Id: ENSP00000260197   ⟸   ENST00000260197
RefSeq Acc Id: ENSP00000434634   ⟸   ENST00000525532
RefSeq Acc Id: ENSP00000435405   ⟸   ENST00000527934
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92673-F1-model_v2 AlphaFold Q92673 1-2214 view protein structure

Promoters
RGD ID:6789395
Promoter ID:HG_KWN:14419
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000260197
Position:
Human AssemblyChrPosition (strand)Source
Build 3611120,827,401 - 120,828,412 (+)MPROMDB
RGD ID:6814964
Promoter ID:HG_MRA:3226
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK294404,   AK316340
Position:
Human AssemblyChrPosition (strand)Source
Build 3611120,965,836 - 120,966,336 (+)MPROMDB
RGD ID:6814961
Promoter ID:HG_MRA:3227
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:AK025583,   AK096577,   BC040643,   U90916
Position:
Human AssemblyChrPosition (strand)Source
Build 3611121,005,876 - 121,006,376 (+)MPROMDB
RGD ID:7222461
Promoter ID:EPDNEW_H16976
Type:initiation region
Name:SORL1_2
Description:sortilin related receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16977  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811121,452,161 - 121,452,221EPDNEW
RGD ID:7222463
Promoter ID:EPDNEW_H16977
Type:initiation region
Name:SORL1_1
Description:sortilin related receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16976  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811121,452,320 - 121,452,380EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25
pathogenic
NM_003105.5(SORL1):c.466T>C (p.Leu156=) single nucleotide variant Malignant melanoma [RCV000069203] Chr11:121478181 [GRCh38]
Chr11:121348890 [GRCh37]
Chr11:120854100 [NCBI36]
Chr11:11q24.1
not provided
NM_003105.5(SORL1):c.750C>T (p.Ser250=) single nucleotide variant Malignant melanoma [RCV000069204] Chr11:121490102 [GRCh38]
Chr11:121360811 [GRCh37]
Chr11:120866021 [NCBI36]
Chr11:11q24.1
not provided
NM_003105.6(SORL1):c.3370C>T (p.Arg1124Cys) single nucleotide variant not provided [RCV001917746] Chr11:121574273 [GRCh38]
Chr11:121444982 [GRCh37]
Chr11:120950192 [NCBI36]
Chr11:11q24.1
uncertain significance|not provided
NM_003105.5(SORL1):c.3594C>T (p.Thr1198=) single nucleotide variant Malignant melanoma [RCV000069206] Chr11:121583471 [GRCh38]
Chr11:121454180 [GRCh37]
Chr11:120959390 [NCBI36]
Chr11:11q24.1
not provided
NM_003105.5(SORL1):c.5394C>T (p.Phe1798=) single nucleotide variant Malignant melanoma [RCV000069207] Chr11:121612807 [GRCh38]
Chr11:121483516 [GRCh37]
Chr11:120988726 [NCBI36]
Chr11:11q24.1
not provided
NM_003105.5(SORL1):c.627C>T (p.Leu209=) single nucleotide variant Malignant melanoma [RCV000062149] Chr11:121488130 [GRCh38]
Chr11:121358839 [GRCh37]
Chr11:120864049 [NCBI36]
Chr11:11q24.1
not provided
NM_003105.5(SORL1):c.1042G>A (p.Glu348Lys) single nucleotide variant Malignant melanoma [RCV000062150] Chr11:121514152 [GRCh38]
Chr11:121384861 [GRCh37]
Chr11:120890071 [NCBI36]
Chr11:11q24.1
not provided
NM_003105.5(SORL1):c.2266+1488G>A single nucleotide variant Lung cancer [RCV000109676] Chr11:121552158 [GRCh38]
Chr11:121422867 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.5(SORL1):c.3580+1043A>G single nucleotide variant Lung cancer [RCV000109677] Chr11:121578443 [GRCh38]
Chr11:121449152 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3738C>T (p.Asn1246=) single nucleotide variant not provided [RCV002070402]|not specified [RCV001579603] Chr11:121586253 [GRCh38]
Chr11:121456962 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3460+12T>C single nucleotide variant not provided [RCV002072294]|not specified [RCV001579987] Chr11:121574375 [GRCh38]
Chr11:121445084 [GRCh37]
Chr11:11q24.1
benign
GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1 copy number loss See cases [RCV000134405] Chr11:120426093..124771213 [GRCh38]
Chr11:120296802..124641109 [GRCh37]
Chr11:119802012..124146319 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-24.1(chr11:121248538-121592523)x3 copy number gain See cases [RCV000140061] Chr11:121248538..121592523 [GRCh38]
Chr11:121119247..121463232 [GRCh37]
Chr11:120624457..120968442 [NCBI36]
Chr11:11q23.3-24.1
likely benign
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-24.1(chr11:120959042-121501131)x3 copy number gain See cases [RCV000239860] Chr11:120959042..121501131 [GRCh37]
Chr11:11q23.3-24.1
uncertain significance
NM_003105.6(SORL1):c.314T>C (p.Met105Thr) single nucleotide variant not provided [RCV000489328] Chr11:121470035 [GRCh38]
Chr11:121340744 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5806C>T (p.Arg1936Cys) single nucleotide variant not provided [RCV000489798] Chr11:121619834 [GRCh38]
Chr11:121490543 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_003105.6(SORL1):c.2401T>C (p.Cys801Arg) single nucleotide variant not provided [RCV000523316] Chr11:121554071 [GRCh38]
Chr11:121424780 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_003105.6(SORL1):c.808G>A (p.Glu270Lys) single nucleotide variant not specified [RCV001579640] Chr11:121496918 [GRCh38]
Chr11:121367627 [GRCh37]
Chr11:11q24.1
benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_003105.6(SORL1):c.4303A>T (p.Thr1435Ser) single nucleotide variant not provided [RCV002058991]|not specified [RCV000443787] Chr11:121591090 [GRCh38]
Chr11:121461799 [GRCh37]
Chr11:11q24.1
likely benign
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_003105.6(SORL1):c.1763C>T (p.Thr588Ile) single nucleotide variant not provided [RCV001532672] Chr11:121543625 [GRCh38]
Chr11:121414334 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4447A>G (p.Thr1483Ala) single nucleotide variant not provided [RCV000939601] Chr11:121595700 [GRCh38]
Chr11:121466409 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.2133C>T (p.Ser711=) single nucleotide variant not provided [RCV000971022] Chr11:121550041 [GRCh38]
Chr11:121420750 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4606G>A (p.Gly1536Ser) single nucleotide variant not provided [RCV000906104] Chr11:121604279 [GRCh38]
Chr11:121474988 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4375G>A (p.Val1459Ile) single nucleotide variant not provided [RCV000901707] Chr11:121595628 [GRCh38]
Chr11:121466337 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2787C>T (p.Asp929=) single nucleotide variant not provided [RCV000901839] Chr11:121558714 [GRCh38]
Chr11:121429423 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6318G>A (p.Gln2106=) single nucleotide variant not provided [RCV000948385] Chr11:121625231 [GRCh38]
Chr11:121495940 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3295T>C (p.Phe1099Leu) single nucleotide variant not provided [RCV000879323]|not specified [RCV001579676] Chr11:121570228 [GRCh38]
Chr11:121440937 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.5426A>G (p.Asn1809Ser) single nucleotide variant not provided [RCV000968477] Chr11:121614877 [GRCh38]
Chr11:121485586 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.759-5G>T single nucleotide variant not provided [RCV000898185] Chr11:121496864 [GRCh38]
Chr11:121367573 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4213+5G>C single nucleotide variant not provided [RCV000922253] Chr11:121590179 [GRCh38]
Chr11:121460888 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4833C>T (p.Asn1611=) single nucleotide variant not provided [RCV000928916] Chr11:121605456 [GRCh38]
Chr11:121476165 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2006C>T (p.Pro669Leu) single nucleotide variant not provided [RCV000922442] Chr11:121545384 [GRCh38]
Chr11:121416093 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.6289G>A (p.Val2097Ile) single nucleotide variant not provided [RCV000922599] Chr11:121625202 [GRCh38]
Chr11:121495911 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6627C>A (p.Val2209=) single nucleotide variant not provided [RCV000965874] Chr11:121629545 [GRCh38]
Chr11:121500254 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3261C>T (p.Asn1087=) single nucleotide variant not provided [RCV000967863] Chr11:121570194 [GRCh38]
Chr11:121440903 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.2571+9A>G single nucleotide variant not provided [RCV000930555] Chr11:121555327 [GRCh38]
Chr11:121426036 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3666G>A (p.Thr1222=) single nucleotide variant not provided [RCV000971023] Chr11:121583543 [GRCh38]
Chr11:121454252 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6248A>G (p.Lys2083Arg) single nucleotide variant not provided [RCV000952697] Chr11:121625161 [GRCh38]
Chr11:121495870 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.5936G>A (p.Ser1979Asn) single nucleotide variant not provided [RCV000917328] Chr11:121621110 [GRCh38]
Chr11:121491819 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4651+10G>A single nucleotide variant not provided [RCV000962229] Chr11:121604334 [GRCh38]
Chr11:121475043 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.638G>A (p.Ser213Asn) single nucleotide variant not provided [RCV000971062] Chr11:121488141 [GRCh38]
Chr11:121358850 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5439T>A (p.His1813Gln) single nucleotide variant not provided [RCV000955196]|not specified [RCV001579770] Chr11:121614890 [GRCh38]
Chr11:121485599 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.1165G>T (p.Val389Leu) single nucleotide variant not provided [RCV000943228] Chr11:121514275 [GRCh38]
Chr11:121384984 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3486G>A (p.Glu1162=) single nucleotide variant not provided [RCV000967246] Chr11:121577306 [GRCh38]
Chr11:121448015 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3798C>T (p.Ser1266=) single nucleotide variant not provided [RCV000967247] Chr11:121586313 [GRCh38]
Chr11:121457022 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.1635C>T (p.His545=) single nucleotide variant not provided [RCV000977908] Chr11:121532502 [GRCh38]
Chr11:121403211 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1977A>G (p.Thr659=) single nucleotide variant not provided [RCV000919433] Chr11:121545355 [GRCh38]
Chr11:121416064 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2409T>C (p.Tyr803=) single nucleotide variant not provided [RCV000880463] Chr11:121554079 [GRCh38]
Chr11:121424788 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1266A>G (p.Gly422=) single nucleotide variant not provided [RCV000937059] Chr11:121520711 [GRCh38]
Chr11:121391420 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2649C>T (p.Leu883=) single nucleotide variant not provided [RCV000976764] Chr11:121557391 [GRCh38]
Chr11:121428100 [GRCh37]
Chr11:11q24.1
likely benign
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_003105.6(SORL1):c.5751G>A (p.Gly1917=) single nucleotide variant not provided [RCV000914147] Chr11:121619779 [GRCh38]
Chr11:121490488 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.6021A>G (p.Gln2007=) single nucleotide variant not provided [RCV000958657] Chr11:121621195 [GRCh38]
Chr11:121491904 [GRCh37]
Chr11:11q24.1
likely benign
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_003105.6(SORL1):c.6288C>T (p.Thr2096=) single nucleotide variant not provided [RCV000914700] Chr11:121625201 [GRCh38]
Chr11:121495910 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.759-7C>T single nucleotide variant not provided [RCV001579426] Chr11:121496862 [GRCh38]
Chr11:121367571 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3581-18C>G single nucleotide variant not provided [RCV002072287]|not specified [RCV001579628] Chr11:121583440 [GRCh38]
Chr11:121454149 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.2441G>A (p.Arg814His) single nucleotide variant not provided [RCV001528960] Chr11:121555188 [GRCh38]
Chr11:121425897 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2499A>T (p.Thr833=) single nucleotide variant not provided [RCV002070407]|not specified [RCV001580118] Chr11:121555246 [GRCh38]
Chr11:121425955 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3624C>T (p.Asn1208=) single nucleotide variant not provided [RCV000895020] Chr11:121583501 [GRCh38]
Chr11:121454210 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.690+8G>A single nucleotide variant not provided [RCV000888078] Chr11:121488201 [GRCh38]
Chr11:121358910 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=) single nucleotide variant not provided [RCV000888357]|not specified [RCV001727817] Chr11:121614899 [GRCh38]
Chr11:121485608 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.5899= (p.Val1967=) variation not provided [RCV000964647] Chr11:121621073 [GRCh38]
Chr11:121491782 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.1653C>T (p.Ala551=) single nucleotide variant not provided [RCV000964648] Chr11:121532520 [GRCh38]
Chr11:121403229 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3056A>G (p.Asn1019Ser) single nucleotide variant not provided [RCV000942333] Chr11:121566946 [GRCh38]
Chr11:121437655 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4374C>T (p.Asn1458=) single nucleotide variant not provided [RCV000939600] Chr11:121595627 [GRCh38]
Chr11:121466336 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6516C>T (p.Phe2172=) single nucleotide variant not provided [RCV000908198] Chr11:121627706 [GRCh38]
Chr11:121498415 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.5765A>C (p.Tyr1922Ser) single nucleotide variant not provided [RCV000888960] Chr11:121619793 [GRCh38]
Chr11:121490502 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4443G>A (p.Pro1481=) single nucleotide variant not provided [RCV000962228] Chr11:121595696 [GRCh38]
Chr11:121466405 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.1247G>A (p.Arg416Gln) single nucleotide variant Early-onset dementia of unclear type [RCV001090110] Chr11:121520692 [GRCh38]
Chr11:121391401 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1890C>T (p.Tyr630=) single nucleotide variant not provided [RCV000890138] Chr11:121545268 [GRCh38]
Chr11:121415977 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.1916G>T (p.Arg639Leu) single nucleotide variant not provided [RCV000889259] Chr11:121545294 [GRCh38]
Chr11:121416003 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1376C>T (p.Thr459Met) single nucleotide variant not provided [RCV000913550] Chr11:121520821 [GRCh38]
Chr11:121391530 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4347C>T (p.Asp1449=) single nucleotide variant not provided [RCV000889351] Chr11:121591134 [GRCh38]
Chr11:121461843 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3220= (p.Gln1074=) variation not provided [RCV000958162] Chr11:121567110 [GRCh38]
Chr11:121437819 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6282G>A (p.Thr2094=) single nucleotide variant not provided [RCV000958163] Chr11:121625195 [GRCh38]
Chr11:121495904 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.5655G>A (p.Pro1885=) single nucleotide variant not provided [RCV000911309] Chr11:121618824 [GRCh38]
Chr11:121489533 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.1494G>A (p.Glu498=) single nucleotide variant not provided [RCV000957017] Chr11:121522675 [GRCh38]
Chr11:121393384 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.2019C>T (p.Ser673=) single nucleotide variant not provided [RCV000957018] Chr11:121545397 [GRCh38]
Chr11:121416106 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3480T>C (p.Ser1160=) single nucleotide variant not provided [RCV000957019] Chr11:121577300 [GRCh38]
Chr11:121448009 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4975C>T (p.Leu1659=) single nucleotide variant not provided [RCV000957020] Chr11:121606871 [GRCh38]
Chr11:121477580 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6171+8C>T single nucleotide variant not provided [RCV000911802] Chr11:121622276 [GRCh38]
Chr11:121492985 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1112A>C (p.Asn371Thr) single nucleotide variant not provided [RCV000889901] Chr11:121514222 [GRCh38]
Chr11:121384931 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5505T>C (p.His1835=) single nucleotide variant not provided [RCV000911368] Chr11:121614956 [GRCh38]
Chr11:121485665 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1547G>A (p.Ser516Asn) single nucleotide variant not provided [RCV000912236] Chr11:121522940 [GRCh38]
Chr11:121393649 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1582G>A (p.Ala528Thr) single nucleotide variant not provided [RCV002072285]|not specified [RCV001579506] Chr11:121522975 [GRCh38]
Chr11:121393684 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.5899G>A (p.Val1967Ile) single nucleotide variant not provided [RCV001658302]|not specified [RCV001579442] Chr11:121621073 [GRCh38]
Chr11:121491782 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4752T>A (p.Ala1584=) single nucleotide variant not provided [RCV002072286]|not specified [RCV001579522] Chr11:121605213 [GRCh38]
Chr11:121475922 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.1653= (p.Ala551=) variation not provided [RCV002070404]|not specified [RCV001579652] Chr11:121532520 [GRCh38]
Chr11:121403229 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3561T>G (p.Ser1187=) single nucleotide variant not provided [RCV002072291]|not specified [RCV001579807] Chr11:121577381 [GRCh38]
Chr11:121448090 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.237G>A (p.Arg79=) single nucleotide variant not provided [RCV001727911]|not specified [RCV001579845] Chr11:121452568 [GRCh38]
Chr11:121323277 [GRCh37]
Chr11:11q24.1
benign|likely benign
NM_003105.6(SORL1):c.5685G>A (p.Lys1895=) single nucleotide variant not provided [RCV002072293]|not specified [RCV001579896] Chr11:121618854 [GRCh38]
Chr11:121489563 [GRCh37]
Chr11:11q24.1
benign
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
NM_003105.6(SORL1):c.807T>C (p.His269=) single nucleotide variant not provided [RCV002072282]|not specified [RCV001579499] Chr11:121496917 [GRCh38]
Chr11:121367626 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.5023C>T (p.Pro1675Ser) single nucleotide variant not provided [RCV001579537] Chr11:121606919 [GRCh38]
Chr11:121477628 [GRCh37]
Chr11:11q24.1
likely benign|uncertain significance
NM_003105.6(SORL1):c.6194A>T (p.Asp2065Val) single nucleotide variant not provided [RCV001310624] Chr11:121625107 [GRCh38]
Chr11:121495816 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2878C>G (p.Leu960Val) single nucleotide variant Moyamoya angiopathy [RCV001261739] Chr11:121558805 [GRCh38]
Chr11:121429514 [GRCh37]
Chr11:11q24.1
likely pathogenic
Single allele single nucleotide variant not provided [RCV001355419] Chr11:121448322 [GRCh38]
Chr11:121319031 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3814+10T>G single nucleotide variant not provided [RCV002072292]|not specified [RCV001579860] Chr11:121586339 [GRCh38]
Chr11:121457048 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3220C>G (p.Gln1074Glu) single nucleotide variant not provided [RCV002070406]|not specified [RCV001579836] Chr11:121567110 [GRCh38]
Chr11:121437819 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4360C>T (p.Pro1454Ser) single nucleotide variant not provided [RCV001488967] Chr11:121591147 [GRCh38]
Chr11:121461856 [GRCh37]
Chr11:11q24.1
likely benign|conflicting interpretations of pathogenicity
NM_003105.6(SORL1):c.3620G>A (p.Arg1207Gln) single nucleotide variant not provided [RCV001518670] Chr11:121583497 [GRCh38]
Chr11:121454206 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3346A>G (p.Ile1116Val) single nucleotide variant not provided [RCV001516640] Chr11:121574249 [GRCh38]
Chr11:121444958 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.2840C>T (p.Thr947Met) single nucleotide variant not provided [RCV001521872]|not specified [RCV002246407] Chr11:121558767 [GRCh38]
Chr11:121429476 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4556T>A (p.Phe1519Tyr) single nucleotide variant not provided [RCV001755329] Chr11:121604229 [GRCh38]
Chr11:121474938 [GRCh37]
Chr11:11q24.1
uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25
pathogenic
NM_003105.6(SORL1):c.3919G>A (p.Asp1307Asn) single nucleotide variant not provided [RCV001759005] Chr11:121588124 [GRCh38]
Chr11:121458833 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3261C>G (p.Asn1087Lys) single nucleotide variant not provided [RCV001776765] Chr11:121570194 [GRCh38]
Chr11:121440903 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1432G>C (p.Ala478Pro) single nucleotide variant Alzheimer disease 9 [RCV001810083] Chr11:121522613 [GRCh38]
Chr11:121393322 [GRCh37]
Chr11:11q24.1
risk factor
NM_003105.6(SORL1):c.6457G>A (p.Val2153Met) single nucleotide variant not provided [RCV001971207] Chr11:121627647 [GRCh38]
Chr11:121498356 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1858G>T (p.Ala620Ser) single nucleotide variant not provided [RCV002009387] Chr11:121543720 [GRCh38]
Chr11:121414429 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1781G>C (p.Ser594Thr) single nucleotide variant not provided [RCV002008709] Chr11:121543643 [GRCh38]
Chr11:121414352 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3947-3T>C single nucleotide variant not provided [RCV001863741] Chr11:121589256 [GRCh38]
Chr11:121459965 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2390A>G (p.Tyr797Cys) single nucleotide variant not provided [RCV002008723] Chr11:121554060 [GRCh38]
Chr11:121424769 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2036G>A (p.Arg679Gln) single nucleotide variant not provided [RCV001874676] Chr11:121545414 [GRCh38]
Chr11:121416123 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2134C>A (p.Pro712Thr) single nucleotide variant not provided [RCV001914890] Chr11:121550042 [GRCh38]
Chr11:121420751 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5844G>A (p.Val1948=) single nucleotide variant not provided [RCV001987709] Chr11:121619872 [GRCh38]
Chr11:121490581 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5165G>C (p.Arg1722Thr) single nucleotide variant not provided [RCV001987150] Chr11:121607289 [GRCh38]
Chr11:121477998 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.6431T>C (p.Leu2144Ser) single nucleotide variant not provided [RCV001949881] Chr11:121627621 [GRCh38]
Chr11:121498330 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1571G>A (p.Ser524Asn) single nucleotide variant not provided [RCV001913771] Chr11:121522964 [GRCh38]
Chr11:121393673 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.201G>C (p.Arg67Ser) single nucleotide variant not provided [RCV001927495] Chr11:121452532 [GRCh38]
Chr11:121323241 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4442C>T (p.Pro1481Leu) single nucleotide variant not provided [RCV001915133] Chr11:121595695 [GRCh38]
Chr11:121466404 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1960C>T (p.Arg654Trp) single nucleotide variant not provided [RCV001891097] Chr11:121545338 [GRCh38]
Chr11:121416047 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1376C>A (p.Thr459Lys) single nucleotide variant not provided [RCV001965289] Chr11:121520821 [GRCh38]
Chr11:121391530 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4369+5G>A single nucleotide variant not provided [RCV001964427] Chr11:121591161 [GRCh38]
Chr11:121461870 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5396G>A (p.Arg1799Gln) single nucleotide variant not provided [RCV002020782] Chr11:121612809 [GRCh38]
Chr11:121483518 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1013C>T (p.Ala338Val) single nucleotide variant not provided [RCV001893819] Chr11:121513076 [GRCh38]
Chr11:121383785 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2231G>A (p.Arg744Gln) single nucleotide variant not provided [RCV001870888] Chr11:121550635 [GRCh38]
Chr11:121421344 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1420T>C (p.Ser474Pro) single nucleotide variant not provided [RCV001986263] Chr11:121522601 [GRCh38]
Chr11:121393310 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3712A>T (p.Lys1238Ter) single nucleotide variant not provided [RCV002007338] Chr11:121586227 [GRCh38]
Chr11:121456936 [GRCh37]
Chr11:11q24.1
pathogenic
NM_003105.6(SORL1):c.3698T>G (p.Val1233Gly) single nucleotide variant not provided [RCV001914099] Chr11:121583575 [GRCh38]
Chr11:121454284 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.6112C>G (p.His2038Asp) single nucleotide variant not provided [RCV001965087] Chr11:121622209 [GRCh38]
Chr11:121492918 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5882A>G (p.Gln1961Arg) single nucleotide variant not provided [RCV001928337] Chr11:121619910 [GRCh38]
Chr11:121490619 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4412G>A (p.Cys1471Tyr) single nucleotide variant not provided [RCV001890060] Chr11:121595665 [GRCh38]
Chr11:121466374 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5811C>A (p.His1937Gln) single nucleotide variant not provided [RCV002022112] Chr11:121619839 [GRCh38]
Chr11:121490548 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.6525C>G (p.Ser2175Arg) single nucleotide variant not provided [RCV001912319] Chr11:121627715 [GRCh38]
Chr11:121498424 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.441A>C (p.Lys147Asn) single nucleotide variant not provided [RCV002023554] Chr11:121478156 [GRCh38]
Chr11:121348865 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3857G>A (p.Arg1286His) single nucleotide variant not provided [RCV001948742] Chr11:121588062 [GRCh38]
Chr11:121458771 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.859C>T (p.Arg287Trp) single nucleotide variant not provided [RCV002039816] Chr11:121496969 [GRCh38]
Chr11:121367678 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5969A>G (p.Glu1990Gly) single nucleotide variant not provided [RCV001894516] Chr11:121621143 [GRCh38]
Chr11:121491852 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5445C>G (p.Ser1815=) single nucleotide variant not provided [RCV001913428] Chr11:121614896 [GRCh38]
Chr11:121485605 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1312A>T (p.Met438Leu) single nucleotide variant not provided [RCV001892405] Chr11:121520757 [GRCh38]
Chr11:121391466 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.6620A>G (p.Asp2207Gly) single nucleotide variant not provided [RCV002004117] Chr11:121629538 [GRCh38]
Chr11:121500247 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.6021A>C (p.Gln2007His) single nucleotide variant not provided [RCV001890502] Chr11:121621195 [GRCh38]
Chr11:121491904 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2050T>C (p.Cys684Arg) single nucleotide variant not provided [RCV001984398] Chr11:121545428 [GRCh38]
Chr11:121416137 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3
pathogenic
NM_003105.6(SORL1):c.2275G>A (p.Glu759Lys) single nucleotide variant not provided [RCV001906705] Chr11:121553945 [GRCh38]
Chr11:121424654 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4265A>G (p.Asn1422Ser) single nucleotide variant not provided [RCV001940987] Chr11:121591052 [GRCh38]
Chr11:121461761 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1106G>A (p.Arg369His) single nucleotide variant not provided [RCV001918025] Chr11:121514216 [GRCh38]
Chr11:121384925 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.346G>A (p.Val116Met) single nucleotide variant not provided [RCV001937852] Chr11:121470067 [GRCh38]
Chr11:121340776 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.919del (p.Met307fs) deletion not provided [RCV002000067] Chr11:121497029 [GRCh38]
Chr11:121367738 [GRCh37]
Chr11:11q24.1
pathogenic
NM_003105.6(SORL1):c.4136G>A (p.Gly1379Asp) single nucleotide variant not provided [RCV002038292] Chr11:121590097 [GRCh38]
Chr11:121460806 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1247G>T (p.Arg416Leu) single nucleotide variant not provided [RCV002037259] Chr11:121520692 [GRCh38]
Chr11:121391401 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2187del (p.Lys730fs) deletion not provided [RCV001906749] Chr11:121550590 [GRCh38]
Chr11:121421299 [GRCh37]
Chr11:11q24.1
pathogenic
NM_003105.6(SORL1):c.3242A>G (p.Asn1081Ser) single nucleotide variant not provided [RCV001924943] Chr11:121570175 [GRCh38]
Chr11:121440884 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1660C>G (p.Gln554Glu) single nucleotide variant not provided [RCV001905003] Chr11:121532527 [GRCh38]
Chr11:121403236 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5873C>G (p.Ser1958Cys) single nucleotide variant not provided [RCV001981209] Chr11:121619901 [GRCh38]
Chr11:121490610 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5666C>T (p.Thr1889Ile) single nucleotide variant not provided [RCV001942971] Chr11:121618835 [GRCh38]
Chr11:121489544 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.29C>T (p.Ser10Leu) single nucleotide variant not provided [RCV001994925] Chr11:121452360 [GRCh38]
Chr11:121323069 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2311C>T (p.Arg771Cys) single nucleotide variant not provided [RCV001903082] Chr11:121553981 [GRCh38]
Chr11:121424690 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2059G>A (p.Gly687Ser) single nucleotide variant not provided [RCV001943756] Chr11:121549967 [GRCh38]
Chr11:121420676 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.807_808inv (p.Glu270Lys) inversion not provided [RCV001979128] Chr11:121496917..121496918 [GRCh38]
Chr11:121367626..121367627 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2336C>A (p.Thr779Asn) single nucleotide variant not provided [RCV001878946] Chr11:121554006 [GRCh38]
Chr11:121424715 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4213+16G>T single nucleotide variant not provided [RCV001951786] Chr11:121590190 [GRCh38]
Chr11:121460899 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5597G>A (p.Arg1866Gln) single nucleotide variant not provided [RCV001882304] Chr11:121615048 [GRCh38]
Chr11:121485757 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1066G>A (p.Glu356Lys) single nucleotide variant not provided [RCV001918104] Chr11:121514176 [GRCh38]
Chr11:121384885 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4629G>C (p.Glu1543Asp) single nucleotide variant not provided [RCV001937661] Chr11:121604302 [GRCh38]
Chr11:121475011 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3908G>A (p.Arg1303His) single nucleotide variant not provided [RCV002047113] Chr11:121588113 [GRCh38]
Chr11:121458822 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1439G>C (p.Arg480Pro) single nucleotide variant not provided [RCV002049711] Chr11:121522620 [GRCh38]
Chr11:121393329 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5073C>T (p.Ser1691=) single nucleotide variant not provided [RCV001879202] Chr11:121607197 [GRCh38]
Chr11:121477906 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3337C>T (p.Pro1113Ser) single nucleotide variant not provided [RCV002026141] Chr11:121570270 [GRCh38]
Chr11:121440979 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.137G>C (p.Arg46Pro) single nucleotide variant not provided [RCV002011332] Chr11:121452468 [GRCh38]
Chr11:121323177 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.418G>A (p.Asp140Asn) single nucleotide variant not provided [RCV001935954] Chr11:121478133 [GRCh38]
Chr11:121348842 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2653C>A (p.Pro885Thr) single nucleotide variant not provided [RCV002018766] Chr11:121557395 [GRCh38]
Chr11:121428104 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.595G>C (p.Gly199Arg) single nucleotide variant not provided [RCV001956665] Chr11:121488098 [GRCh38]
Chr11:121358807 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1148C>T (p.Ser383Phe) single nucleotide variant not provided [RCV001977616] Chr11:121514258 [GRCh38]
Chr11:121384967 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3186G>A (p.Gln1062=) single nucleotide variant not provided [RCV001901896] Chr11:121567076 [GRCh38]
Chr11:121437785 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.791T>C (p.Ile264Thr) single nucleotide variant not provided [RCV002028363] Chr11:121496901 [GRCh38]
Chr11:121367610 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3813C>T (p.Cys1271=) single nucleotide variant not provided [RCV002013384] Chr11:121586328 [GRCh38]
Chr11:121457037 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.493G>A (p.Ala165Thr) single nucleotide variant not provided [RCV001885896] Chr11:121478208 [GRCh38]
Chr11:121348917 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.6269G>T (p.Gly2090Val) single nucleotide variant not provided [RCV001918271] Chr11:121625182 [GRCh38]
Chr11:121495891 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2669T>C (p.Met890Thr) single nucleotide variant not provided [RCV002015570] Chr11:121558596 [GRCh38]
Chr11:121429305 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3005C>T (p.Thr1002Met) single nucleotide variant not provided [RCV001973347] Chr11:121559613 [GRCh38]
Chr11:121430322 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3857G>T (p.Arg1286Leu) single nucleotide variant not provided [RCV001933076] Chr11:121588062 [GRCh38]
Chr11:121458771 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.550G>A (p.Ala184Thr) single nucleotide variant not provided [RCV001879537] Chr11:121488053 [GRCh38]
Chr11:121358762 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.862del (p.Glu288fs) deletion not provided [RCV001936584] Chr11:121496970 [GRCh38]
Chr11:121367679 [GRCh37]
Chr11:11q24.1
pathogenic
NM_003105.6(SORL1):c.1838T>G (p.Leu613Arg) single nucleotide variant not provided [RCV002029142] Chr11:121543700 [GRCh38]
Chr11:121414409 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3191A>G (p.Tyr1064Cys) single nucleotide variant not provided [RCV001900319] Chr11:121567081 [GRCh38]
Chr11:121437790 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5265T>G (p.Ile1755Met) single nucleotide variant not provided [RCV001989854] Chr11:121611101 [GRCh38]
Chr11:121481810 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1951T>G (p.Phe651Val) single nucleotide variant not provided [RCV001933879] Chr11:121545329 [GRCh38]
Chr11:121416038 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5322+5T>C single nucleotide variant not provided [RCV001959960] Chr11:121611163 [GRCh38]
Chr11:121481872 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2473G>A (p.Val825Met) single nucleotide variant not provided [RCV001925861] Chr11:121555220 [GRCh38]
Chr11:121425929 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1729T>C (p.Ser577Pro) single nucleotide variant not provided [RCV001980156] Chr11:121543591 [GRCh38]
Chr11:121414300 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4322A>G (p.Tyr1441Cys) single nucleotide variant not provided [RCV001980779] Chr11:121591109 [GRCh38]
Chr11:121461818 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2228C>T (p.Ala743Val) single nucleotide variant not provided [RCV002018803] Chr11:121550632 [GRCh38]
Chr11:121421341 [GRCh37]
Chr11:11q24.1
uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication Glucose-6-phosphate transport defect [RCV001940046] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1
uncertain significance
NM_003105.6(SORL1):c.408C>T (p.Tyr136=) single nucleotide variant not provided [RCV001956500] Chr11:121478123 [GRCh38]
Chr11:121348832 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.6401C>T (p.Thr2134Met) single nucleotide variant not provided [RCV001902480] Chr11:121627591 [GRCh38]
Chr11:121498300 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2771A>G (p.Asn924Ser) single nucleotide variant not provided [RCV001864888] Chr11:121558698 [GRCh38]
Chr11:121429407 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.1202C>A (p.Thr401Asn) single nucleotide variant not provided [RCV001902812] Chr11:121514312 [GRCh38]
Chr11:121385021 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5986T>A (p.Leu1996Met) single nucleotide variant not provided [RCV001991142] Chr11:121621160 [GRCh38]
Chr11:121491869 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.3013A>G (p.Met1005Val) single nucleotide variant not provided [RCV001935133] Chr11:121559621 [GRCh38]
Chr11:121430330 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5302A>G (p.Thr1768Ala) single nucleotide variant not provided [RCV001878310] Chr11:121611138 [GRCh38]
Chr11:121481847 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4309G>A (p.Val1437Met) single nucleotide variant not provided [RCV002014331] Chr11:121591096 [GRCh38]
Chr11:121461805 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5195G>C (p.Gly1732Ala) single nucleotide variant not provided [RCV001918270] Chr11:121608132 [GRCh38]
Chr11:121478841 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4077C>T (p.Cys1359=) single nucleotide variant not provided [RCV001976204] Chr11:121589389 [GRCh38]
Chr11:121460098 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.5618T>A (p.Phe1873Tyr) single nucleotide variant not provided [RCV001933745] Chr11:121618787 [GRCh38]
Chr11:121489496 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.4314C>T (p.Cys1438=) single nucleotide variant not provided [RCV002169698] Chr11:121591101 [GRCh38]
Chr11:121461810 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5144_5145insGGGT (p.Asn1716fs) insertion not provided [RCV002224373] Chr11:121607265..121607266 [GRCh38]
Chr11:121477974..121477975 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_003105.6(SORL1):c.2841G>A (p.Thr947=) single nucleotide variant not provided [RCV002190826] Chr11:121558768 [GRCh38]
Chr11:121429477 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1749G>A (p.Val583=) single nucleotide variant not provided [RCV002106380] Chr11:121543611 [GRCh38]
Chr11:121414320 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.2910+16G>A single nucleotide variant not provided [RCV002074965] Chr11:121558853 [GRCh38]
Chr11:121429562 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.5186G>A (p.Arg1729His) single nucleotide variant not provided [RCV002075658] Chr11:121608123 [GRCh38]
Chr11:121478832 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3224-16G>A single nucleotide variant not provided [RCV002148724] Chr11:121570141 [GRCh38]
Chr11:121440850 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1871C>T (p.Pro624Leu) single nucleotide variant not provided [RCV002108709] Chr11:121545249 [GRCh38]
Chr11:121415958 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4370-13T>C single nucleotide variant not provided [RCV002145569] Chr11:121595610 [GRCh38]
Chr11:121466319 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4176C>T (p.Asn1392=) single nucleotide variant not provided [RCV002124807] Chr11:121590137 [GRCh38]
Chr11:121460846 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.1107C>G (p.Arg369=) single nucleotide variant not provided [RCV002165551] Chr11:121514217 [GRCh38]
Chr11:121384926 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4779-8dup duplication not provided [RCV002127375] Chr11:121605385..121605386 [GRCh38]
Chr11:121476094..121476095 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.5295C>T (p.Phe1765=) single nucleotide variant not provided [RCV002127393] Chr11:121611131 [GRCh38]
Chr11:121481840 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.529-8C>T single nucleotide variant not provided [RCV002108317] Chr11:121488024 [GRCh38]
Chr11:121358733 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.403-18del deletion not provided [RCV002126447] Chr11:121478099 [GRCh38]
Chr11:121348808 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4519+14G>C single nucleotide variant not provided [RCV002207052] Chr11:121595786 [GRCh38]
Chr11:121466495 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.409G>A (p.Val137Met) single nucleotide variant not provided [RCV002109662] Chr11:121478124 [GRCh38]
Chr11:121348833 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5051G>A (p.Arg1684His) single nucleotide variant not provided [RCV002075599] Chr11:121606947 [GRCh38]
Chr11:121477656 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.759-8del deletion not provided [RCV002145247] Chr11:121496849 [GRCh38]
Chr11:121367558 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6488G>A (p.Arg2163Gln) single nucleotide variant not provided [RCV002148752] Chr11:121627678 [GRCh38]
Chr11:121498387 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2180+7A>G single nucleotide variant not provided [RCV002192489] Chr11:121550095 [GRCh38]
Chr11:121420804 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3049+22dup duplication not provided [RCV002148584] Chr11:121559675..121559676 [GRCh38]
Chr11:121430384..121430385 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.286-4801T>G single nucleotide variant not provided [RCV002167845] Chr11:121465206 [GRCh38]
Chr11:121335915 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6453G>C (p.Leu2151=) single nucleotide variant not provided [RCV002166285] Chr11:121627643 [GRCh38]
Chr11:121498352 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1515C>T (p.Ile505=) single nucleotide variant not provided [RCV002212446] Chr11:121522696 [GRCh38]
Chr11:121393405 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3399A>G (p.Pro1133=) single nucleotide variant not provided [RCV002165459] Chr11:121574302 [GRCh38]
Chr11:121445011 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2571+15G>A single nucleotide variant not provided [RCV002186998] Chr11:121555333 [GRCh38]
Chr11:121426042 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.296A>G (p.Asn99Ser) single nucleotide variant not provided [RCV002087940] Chr11:121470017 [GRCh38]
Chr11:121340726 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5890-9dup duplication not provided [RCV002075049] Chr11:121621049..121621050 [GRCh38]
Chr11:121491758..121491759 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3707-16T>C single nucleotide variant not provided [RCV002080321] Chr11:121586206 [GRCh38]
Chr11:121456915 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1677C>T (p.Asn559=) single nucleotide variant not provided [RCV002117306] Chr11:121532544 [GRCh38]
Chr11:121403253 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3207T>C (p.Asn1069=) single nucleotide variant not provided [RCV002205599] Chr11:121567097 [GRCh38]
Chr11:121437806 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.528+18C>T single nucleotide variant not provided [RCV002115742] Chr11:121478261 [GRCh38]
Chr11:121348970 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4074C>T (p.Asn1358=) single nucleotide variant not provided [RCV002079032] Chr11:121589386 [GRCh38]
Chr11:121460095 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3801T>C (p.Asp1267=) single nucleotide variant not provided [RCV002175144] Chr11:121586316 [GRCh38]
Chr11:121457025 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5628G>T (p.Thr1876=) single nucleotide variant not provided [RCV002173441] Chr11:121618797 [GRCh38]
Chr11:121489506 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2834G>A (p.Arg945Gln) single nucleotide variant not provided [RCV002168506] Chr11:121558761 [GRCh38]
Chr11:121429470 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2664-5G>A single nucleotide variant not provided [RCV002127457] Chr11:121558586 [GRCh38]
Chr11:121429295 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6172-17C>T single nucleotide variant not provided [RCV002095309] Chr11:121625068 [GRCh38]
Chr11:121495777 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6386A>G (p.Gln2129Arg) single nucleotide variant not provided [RCV002113953] Chr11:121627576 [GRCh38]
Chr11:121498285 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.6531C>T (p.Tyr2177=) single nucleotide variant not provided [RCV002132422] Chr11:121627721 [GRCh38]
Chr11:121498430 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.1806G>A (p.Ser602=) single nucleotide variant not provided [RCV002196675] Chr11:121543668 [GRCh38]
Chr11:121414377 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3501C>G (p.Ser1167=) single nucleotide variant not provided [RCV002096157] Chr11:121577321 [GRCh38]
Chr11:121448030 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4407G>C (p.Gly1469=) single nucleotide variant not provided [RCV002174262] Chr11:121595660 [GRCh38]
Chr11:121466369 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2248G>A (p.Val750Ile) single nucleotide variant not provided [RCV002134309] Chr11:121550652 [GRCh38]
Chr11:121421361 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5724+16C>T single nucleotide variant not provided [RCV002115940] Chr11:121618909 [GRCh38]
Chr11:121489618 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.6364+10G>A single nucleotide variant not provided [RCV002112955] Chr11:121625287 [GRCh38]
Chr11:121495996 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5688G>A (p.Thr1896=) single nucleotide variant not provided [RCV002188884] Chr11:121618857 [GRCh38]
Chr11:121489566 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5878G>C (p.Asp1960His) single nucleotide variant not provided [RCV002193818] Chr11:121619906 [GRCh38]
Chr11:121490615 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2200G>A (p.Asp734Asn) single nucleotide variant not provided [RCV002171889] Chr11:121550604 [GRCh38]
Chr11:121421313 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.1864+18T>C single nucleotide variant not provided [RCV002153179] Chr11:121543744 [GRCh38]
Chr11:121414453 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4651+16C>T single nucleotide variant not provided [RCV002129993] Chr11:121604340 [GRCh38]
Chr11:121475049 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1523-20T>C single nucleotide variant not provided [RCV002116098] Chr11:121522896 [GRCh38]
Chr11:121393605 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.63G>A (p.Leu21=) single nucleotide variant not provided [RCV002153410] Chr11:121452394 [GRCh38]
Chr11:121323103 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2572-13_2572-12del deletion not provided [RCV002153429] Chr11:121557301..121557302 [GRCh38]
Chr11:121428010..121428011 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5419+12G>T single nucleotide variant not provided [RCV002157249] Chr11:121612844 [GRCh38]
Chr11:121483553 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.3581-16C>T single nucleotide variant not provided [RCV002121017] Chr11:121583442 [GRCh38]
Chr11:121454151 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5419+16T>G single nucleotide variant not provided [RCV002101609] Chr11:121612848 [GRCh38]
Chr11:121483557 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.6402G>A (p.Thr2134=) single nucleotide variant not provided [RCV002136226] Chr11:121627592 [GRCh38]
Chr11:121498301 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2440-15C>T single nucleotide variant not provided [RCV002082159] Chr11:121555172 [GRCh38]
Chr11:121425881 [GRCh37]
Chr11:11q24.1
benign
NM_003105.6(SORL1):c.4651+17GGGCT[7] microsatellite not provided [RCV002118838] Chr11:121604340..121604341 [GRCh38]
Chr11:121475049..121475050 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1404+10C>G single nucleotide variant not provided [RCV002157406] Chr11:121520859 [GRCh38]
Chr11:121391568 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3666G>C (p.Thr1222=) single nucleotide variant not provided [RCV002103899] Chr11:121583543 [GRCh38]
Chr11:121454252 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2010G>A (p.Val670=) single nucleotide variant not provided [RCV002163486] Chr11:121545388 [GRCh38]
Chr11:121416097 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4233C>T (p.Phe1411=) single nucleotide variant not provided [RCV002153947] Chr11:121591020 [GRCh38]
Chr11:121461729 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5420-10G>A single nucleotide variant not provided [RCV002144192] Chr11:121614861 [GRCh38]
Chr11:121485570 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2904C>T (p.Val968=) single nucleotide variant not provided [RCV002083396] Chr11:121558831 [GRCh38]
Chr11:121429540 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3460+12_3460+13delinsCT indel not provided [RCV002144393] Chr11:121574375..121574376 [GRCh38]
Chr11:121445084..121445085 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.136C>G (p.Arg46Gly) single nucleotide variant not provided [RCV002102203] Chr11:121452467 [GRCh38]
Chr11:121323176 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4689G>C (p.Trp1563Cys) single nucleotide variant not provided [RCV002198530] Chr11:121605150 [GRCh38]
Chr11:121475859 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4857A>G (p.Pro1619=) single nucleotide variant not provided [RCV002098719] Chr11:121605480 [GRCh38]
Chr11:121476189 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4448C>T (p.Thr1483Met) single nucleotide variant not provided [RCV002119488] Chr11:121595701 [GRCh38]
Chr11:121466410 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.3929C>T (p.Ala1310Val) single nucleotide variant not provided [RCV002100273] Chr11:121588134 [GRCh38]
Chr11:121458843 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.5076G>A (p.Arg1692=) single nucleotide variant not provided [RCV002156276] Chr11:121607200 [GRCh38]
Chr11:121477909 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.2052T>C (p.Cys684=) single nucleotide variant not provided [RCV002141346] Chr11:121549960 [GRCh38]
Chr11:121420669 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.4293C>T (p.Cys1431=) single nucleotide variant not provided [RCV002183706] Chr11:121591080 [GRCh38]
Chr11:121461789 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.6064+20G>C single nucleotide variant not provided [RCV002140156] Chr11:121621258 [GRCh38]
Chr11:121491967 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.1557C>T (p.Asn519=) single nucleotide variant not provided [RCV002182045] Chr11:121522950 [GRCh38]
Chr11:121393659 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.351C>T (p.Ile117=) single nucleotide variant not provided [RCV002141723] Chr11:121470072 [GRCh38]
Chr11:121340781 [GRCh37]
Chr11:11q24.1
likely benign
NM_003105.6(SORL1):c.528+3528G>C single nucleotide variant not provided [RCV002262372] Chr11:121481771 [GRCh38]
Chr11:121352480 [GRCh37]
Chr11:11q24.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11185 AgrOrtholog
COSMIC SORL1 COSMIC
Ensembl Genes ENSG00000137642 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000260197 ENTREZGENE
  ENSP00000260197.6 UniProtKB/Swiss-Prot
  ENSP00000432131.1 UniProtKB/TrEMBL
  ENSP00000434634.1 UniProtKB/TrEMBL
  ENSP00000435405.1 UniProtKB/TrEMBL
  ENSP00000436447.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000260197 ENTREZGENE
  ENST00000260197.12 UniProtKB/Swiss-Prot
  ENST00000525532.5 UniProtKB/TrEMBL
  ENST00000527934.1 UniProtKB/TrEMBL
  ENST00000532694.5 UniProtKB/TrEMBL
  ENST00000534286.5 UniProtKB/TrEMBL
Gene3D-CATH 2.120.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137642 GTEx
HGNC ID HGNC:11185 ENTREZGENE
Human Proteome Map SORL1 Human Proteome Map
InterPro 6-blade_b-propeller_TolB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_class-A_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_classB_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sortilin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sortilin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6653 ENTREZGENE
OMIM 602005 OMIM
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sortilin-Vps10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sortilin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36022 PharmGKB
PRINTS LDLRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EGF_2 UniProtKB/Swiss-Prot
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00135 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R3H2_HUMAN UniProtKB/TrEMBL
  E9PKB0_HUMAN UniProtKB/TrEMBL
  E9PP43_HUMAN UniProtKB/TrEMBL
  E9PPB3_HUMAN UniProtKB/TrEMBL
  E9PS32_HUMAN UniProtKB/TrEMBL
  L8EA23_HUMAN UniProtKB/TrEMBL
  Q92673 ENTREZGENE
  Q92856 ENTREZGENE
  SORL_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RNX7 UniProtKB/Swiss-Prot
  Q92856 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 SORL1  sortilin related receptor 1    sortilin-related receptor, L(DLR class) A repeats containing  Symbol and/or name change 5135510 APPROVED
2016-04-05 SORL1  sortilin-related receptor, L(DLR class) A repeats containing  C11orf32  chromosome 11 open reading frame 32  Data Merged 737654 PROVISIONAL
2011-07-27 SORL1  sortilin-related receptor, L(DLR class) A repeats containing  SORL1  sortilin-related receptor, L(DLR class) A repeats-containing  Symbol and/or name change 5135510 APPROVED