GPC1 (glypican 1) - Rat Genome Database

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Gene: GPC1 (glypican 1) Homo sapiens
Analyze
Symbol: GPC1
Name: glypican 1
RGD ID: 730930
HGNC Page HGNC
Description: Exhibits copper ion binding activity. Involved in heparan sulfate proteoglycan catabolic process. Localizes to cytosol; nucleoplasm; and plasma membrane. Colocalizes with membrane raft.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ38078; glypican; glypican proteoglycan 1; glypican-1
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
GRCh38.p13 Ensembl2240,435,663 - 240,468,076 (+)EnsemblGRCh38hg38GRCh38
GRCh382240,435,663 - 240,468,076 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,375,080 - 241,407,493 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,023,788 - 241,056,168 (+)NCBINCBI36hg18NCBI36
Build 342241,095,104 - 241,127,483NCBI
Celera2235,047,069 - 235,079,415 (+)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2233,131,263 - 233,163,487 (+)NCBIHuRef
CHM1_12241,381,165 - 241,413,509 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bicalutamide  (EXP)
bisphenol A  (ISO)
butan-1-ol  (EXP)
cadmium atom  (EXP,ISO)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
folic acid  (ISO)
heparan sulfate  (ISO)
isobutanol  (EXP)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
linuron  (ISO)
nitric oxide  (ISO)
nitroxyl  (ISO)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
phenobarbital  (ISO)
piroxicam  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1417860   PMID:2148568   PMID:7774946   PMID:8125298   PMID:9802880   PMID:10196157   PMID:10364234   PMID:10527946   PMID:10892742   PMID:11336704   PMID:11375980   PMID:11454708  
PMID:11968010   PMID:12084716   PMID:12477932   PMID:12732622   PMID:12972423   PMID:14702039   PMID:15084524   PMID:15249209   PMID:15297422   PMID:15489334   PMID:15547662   PMID:16723715  
PMID:17016645   PMID:18064304   PMID:18536657   PMID:18634034   PMID:19023125   PMID:19166823   PMID:19199708   PMID:19479373   PMID:21265098   PMID:21873635   PMID:21932778   PMID:22351761  
PMID:22863883   PMID:23376485   PMID:23624389   PMID:23736812   PMID:24463821   PMID:25046223   PMID:25505242   PMID:26106858   PMID:26186194   PMID:26203194   PMID:26496610   PMID:26517809  
PMID:26561776   PMID:27068509   PMID:27373597   PMID:27559042   PMID:27576135   PMID:27609421   PMID:27684187   PMID:27688027   PMID:28077445   PMID:28232049   PMID:28440066   PMID:28514442  
PMID:29055044   PMID:29117863   PMID:29180619   PMID:29327712   PMID:29467282   PMID:29785020   PMID:30358133   PMID:30631154   PMID:30730015   PMID:30803713   PMID:31141571   PMID:31256115  
PMID:31391540   PMID:31980649   PMID:32152502   PMID:32315284   PMID:32780723  


Genomics

Comparative Map Data
GPC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2240,435,663 - 240,468,076 (+)EnsemblGRCh38hg38GRCh38
GRCh382240,435,663 - 240,468,076 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,375,080 - 241,407,493 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,023,788 - 241,056,168 (+)NCBINCBI36hg18NCBI36
Build 342241,095,104 - 241,127,483NCBI
Celera2235,047,069 - 235,079,415 (+)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2233,131,263 - 233,163,487 (+)NCBIHuRef
CHM1_12241,381,165 - 241,413,509 (+)NCBICHM1_1
Gpc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39192,759,367 - 92,787,933 (+)NCBIGRCm39mm39
GRCm39 Ensembl192,759,367 - 92,788,501 (+)Ensembl
GRCm38192,831,645 - 92,860,211 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl192,831,645 - 92,860,779 (+)EnsemblGRCm38mm10GRCm38
MGSCv37194,728,263 - 94,756,773 (+)NCBIGRCm37mm9NCBIm37
MGSCv36194,662,092 - 94,690,602 (+)NCBImm8
Celera195,776,004 - 95,804,554 (+)NCBICelera
Cytogenetic Map1DNCBI
Gpc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2993,396,234 - 93,424,047 (+)NCBI
Rnor_6.0 Ensembl999,998,275 - 100,026,818 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0999,998,275 - 100,026,818 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0999,664,180 - 99,692,723 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera990,933,123 - 90,960,752 (+)NCBICelera
Cytogenetic Map9q36NCBI
Gpc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955542947,556 - 968,295 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955542947,556 - 968,295 (-)NCBIChiLan1.0ChiLan1.0
GPC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B246,509,247 - 246,523,569 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B246,511,082 - 246,523,569 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B127,684,839 - 127,717,294 (+)NCBIMhudiblu_PPA_v0panPan3
GPC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12550,484,554 - 50,492,940 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2550,482,071 - 50,515,877 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2550,936,475 - 50,962,772 (+)NCBI
ROS_Cfam_1.02550,917,330 - 50,943,617 (+)NCBI
UMICH_Zoey_3.12550,759,401 - 50,785,702 (+)NCBI
UNSW_CanFamBas_1.02550,505,447 - 50,531,706 (+)NCBI
UU_Cfam_GSD_1.02550,782,678 - 50,809,060 (+)NCBI
Gpc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303192,090,303 - 192,100,688 (+)NCBI
SpeTri2.0NW_0049367451,118,732 - 1,127,169 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15139,457,669 - 139,484,671 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115139,457,866 - 139,483,704 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215154,436,077 - 154,449,277 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110126,464,383 - 126,496,686 (+)NCBI
Gpc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248474,832,610 - 4,853,849 (+)NCBI

Position Markers
RH80235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,405,731 - 241,405,960UniSTSGRCh37
Build 362241,054,404 - 241,054,633RGDNCBI36
Celera2235,077,651 - 235,077,880RGD
Cytogenetic Map2q35-q37UniSTS
HuRef2233,161,723 - 233,161,952UniSTS
GeneMap99-GB4 RH Map2743.33UniSTS
G42945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,388,877 - 241,389,006UniSTSGRCh37
Build 362241,037,550 - 241,037,679RGDNCBI36
Celera2235,060,886 - 235,061,015RGD
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2q35-q37UniSTS
HuRef2233,145,094 - 233,145,223UniSTS
G31174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,376,435 - 241,376,551UniSTSGRCh37
Build 362241,025,108 - 241,025,224RGDNCBI36
Celera2235,048,389 - 235,048,505RGD
Cytogenetic Map2q35-q37UniSTS
HuRef2233,132,583 - 233,132,699UniSTS
G31175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,389,960 - 241,390,483UniSTSGRCh37
Build 362241,038,633 - 241,039,156RGDNCBI36
Celera2235,061,969 - 235,062,492RGD
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2q35-q37UniSTS
HuRef2233,146,177 - 233,146,700UniSTS
G31176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,394,035 - 241,394,151UniSTSGRCh37
Build 362241,042,708 - 241,042,824RGDNCBI36
Celera2235,065,952 - 235,066,068RGD
Cytogenetic Map2q35-q37UniSTS
Cytogenetic Map2q37.3UniSTS
HuRef2233,150,063 - 233,150,179UniSTS
G31177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,400,913 - 241,401,042UniSTSGRCh37
Build 362241,049,586 - 241,049,715RGDNCBI36
Celera2235,072,831 - 235,072,960RGD
Cytogenetic Map2q35-q37UniSTS
HuRef2233,156,942 - 233,157,071UniSTS
G31183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,402,773 - 241,402,933UniSTSGRCh37
Build 362241,051,446 - 241,051,606RGDNCBI36
Celera2235,074,691 - 235,074,851RGD
Cytogenetic Map2q35-q37UniSTS
HuRef2233,158,802 - 233,158,962UniSTS
GPC1__6645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,406,783 - 241,407,487UniSTSGRCh37
Build 362241,055,456 - 241,056,160RGDNCBI36
Celera2235,078,703 - 235,079,407RGD
HuRef2233,162,775 - 233,163,479UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4310
Count of miRNA genes:972
Interacting mature miRNAs:1211
Transcripts:ENST00000264039, ENST00000420138, ENST00000425056, ENST00000426280, ENST00000427506, ENST00000455111, ENST00000466624, ENST00000469694, ENST00000495100
Prediction methods:Microtar, Miranda, Rnahybrid
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.


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 2326 2189 1598 507 410 349 4333 2146 3653 340 1431 1579 171 1198 2787 3
Low 103 256 120 112 612 112 21 43 72 78 19 27 3 6 1 3
Below cutoff 6 545 7 3 867 4 1 5 8 1 10 4 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000264039   ⟹   ENSP00000264039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,435,663 - 240,468,076 (+)Ensembl
RefSeq Acc Id: ENST00000420138   ⟹   ENSP00000415077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,452,811 - 240,466,330 (+)Ensembl
RefSeq Acc Id: ENST00000425056   ⟹   ENSP00000392629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,457,965 - 240,464,939 (+)Ensembl
RefSeq Acc Id: ENST00000426280   ⟹   ENSP00000410251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,454,838 - 240,462,484 (+)Ensembl
RefSeq Acc Id: ENST00000427506   ⟹   ENSP00000389276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,457,434 - 240,462,568 (+)Ensembl
RefSeq Acc Id: ENST00000455111   ⟹   ENSP00000390242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,463,397 - 240,466,200 (+)Ensembl
RefSeq Acc Id: ENST00000466624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,465,527 - 240,466,793 (+)Ensembl
RefSeq Acc Id: ENST00000469694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,442,327 - 240,466,358 (+)Ensembl
RefSeq Acc Id: ENST00000495100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2240,458,187 - 240,466,358 (+)Ensembl
RefSeq Acc Id: NM_002081   ⟹   NP_002072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,435,663 - 240,468,076 (+)NCBI
GRCh372241,375,115 - 241,407,495 (+)ENTREZGENE
Build 362241,023,788 - 241,056,168 (+)NCBI Archive
HuRef2233,131,263 - 233,163,487 (+)ENTREZGENE
CHM1_12241,381,165 - 241,413,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510976   ⟹   XP_011509278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,456,277 - 240,468,076 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002072   ⟸   NM_002081
- Peptide Label: precursor
- UniProtKB: P35052 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509278   ⟸   XM_011510976
- Peptide Label: isoform X1
- UniProtKB: H7C410 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000392629   ⟸   ENST00000425056
RefSeq Acc Id: ENSP00000410251   ⟸   ENST00000426280
RefSeq Acc Id: ENSP00000389276   ⟸   ENST00000427506
RefSeq Acc Id: ENSP00000390242   ⟸   ENST00000455111
RefSeq Acc Id: ENSP00000415077   ⟸   ENST00000420138
RefSeq Acc Id: ENSP00000264039   ⟸   ENST00000264039

Promoters
RGD ID:6863296
Promoter ID:EPDNEW_H4813
Type:initiation region
Name:GPC1_1
Description:glypican 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4814  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,435,690 - 240,435,750EPDNEW
RGD ID:6863298
Promoter ID:EPDNEW_H4814
Type:initiation region
Name:GPC1_2
Description:glypican 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4813  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,435,857 - 240,435,917EPDNEW
RGD ID:6797528
Promoter ID:HG_KWN:38079
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000257179
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,023,111 - 241,023,912 (+)MPROMDB
RGD ID:6797529
Promoter ID:HG_KWN:38086
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000325971,   OTTHUMT00000325976,   OTTHUMT00000325977
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,046,211 - 241,046,711 (+)MPROMDB
RGD ID:6797530
Promoter ID:HG_KWN:38087
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:OTTHUMT00000326005
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,051,061 - 241,051,672 (+)MPROMDB
RGD ID:6797531
Promoter ID:HG_KWN:38088
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000326006
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,052,711 - 241,053,812 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] Chr2:238939181..242065208 [GRCh38]
Chr2:239860877..243007359 [GRCh37]
Chr2:239525814..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 copy number loss See cases [RCV000052702] Chr2:240067206..242086301 [GRCh38]
Chr2:241006623..243028452 [GRCh37]
Chr2:240655296..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 copy number loss See cases [RCV000052703] Chr2:240444819..242086301 [GRCh38]
Chr2:241384236..243028452 [GRCh37]
Chr2:241032909..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240403667-240910830)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053816]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053816]|See cases [RCV000053816] Chr2:240403667..240910830 [GRCh38]
Chr2:241343084..241850247 [GRCh37]
Chr2:240991757..241498920 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 copy number gain See cases [RCV000133659] Chr2:238756369..241771051 [GRCh38]
Chr2:239665010..242710466 [GRCh37]
Chr2:239329749..242359139 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 copy number loss See cases [RCV000135842] Chr2:240171137..242065208 [GRCh38]
Chr2:241110554..243007359 [GRCh37]
Chr2:240759227..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 copy number loss See cases [RCV000136686] Chr2:240067206..242126245 [GRCh38]
Chr2:241006623..243059659 [GRCh37]
Chr2:240655296..242717069 [NCBI36]
Chr2:2q37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 copy number loss See cases [RCV000138117] Chr2:238833519..242126245 [GRCh38]
Chr2:239742160..243059659 [GRCh37]
Chr2:239406907..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 copy number loss See cases [RCV000138565] Chr2:240187901..242126245 [GRCh38]
Chr2:241127318..243059659 [GRCh37]
Chr2:240775991..242717069 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 copy number loss See cases [RCV000140648] Chr2:240228628..242126245 [GRCh38]
Chr2:241168045..243059659 [GRCh37]
Chr2:240816718..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 copy number loss See cases [RCV000141691] Chr2:239507342..241841232 [GRCh38]
Chr2:240429036..242783384 [GRCh37]
Chr2:240093973..242432057 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 copy number loss See cases [RCV000143423] Chr2:239642965..241841232 [GRCh38]
Chr2:240564659..242783384 [GRCh37]
Chr2:240229596..242432057 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 copy number gain See cases [RCV000167564] Chr2:239873381..243006013 [GRCh37]
Chr2:2q37.3
pathogenic
NC_000002.12:g.(?_239048168)_(240879119_?)del deletion Primary hyperoxaluria, type I [RCV000186424] Chr2:239048168..240879119 [GRCh38]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1 copy number loss See cases [RCV000510186] Chr2:240541136..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1 copy number loss See cases [RCV000510310] Chr2:239748306..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241315690-241645335)x3 copy number gain See cases [RCV000511888] Chr2:241315690..241645335 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1 copy number loss See cases [RCV000511956] Chr2:240630455..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1 copy number loss See cases [RCV000511227] Chr2:240161377..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3 copy number gain See cases [RCV000512298] Chr2:240141439..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1 copy number loss not provided [RCV000682145] Chr2:240457943..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1 copy number loss not provided [RCV000682146] Chr2:240076138..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1 copy number loss not provided [RCV000682148] Chr2:239884390..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1 copy number loss not provided [RCV000682151] Chr2:237480048..241611309 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241395503-241409456)x0 copy number loss not provided [RCV000741029] Chr2:241395503..241409456 [GRCh37]
Chr2:2q37.3
benign
NM_002081.3(GPC1):c.446G>A (p.Arg149His) single nucleotide variant not provided [RCV000899115] Chr2:240462311 [GRCh38]
Chr2:241401728 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_002081.3(GPC1):c.1422C>T (p.Asn474=) single nucleotide variant not provided [RCV000924467] Chr2:240465626 [GRCh38]
Chr2:241405043 [GRCh37]
Chr2:2q37.3
likely benign
NM_002081.3(GPC1):c.381C>T (p.Pro127=) single nucleotide variant not provided [RCV000973323] Chr2:240462246 [GRCh38]
Chr2:241401663 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1 copy number loss not provided [RCV001005385] Chr2:240112450..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 copy number loss See cases [RCV000790569] Chr2:239894072..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241404033-242684292)x1 copy number loss not provided [RCV000997728] Chr2:241404033..242684292 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1 copy number loss not provided [RCV001007525] Chr2:236172348..241611309 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
NM_002081.3(GPC1):c.1293C>T (p.Asp431=) single nucleotide variant not provided [RCV000963116] Chr2:240465497 [GRCh38]
Chr2:241404914 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1 copy number loss not provided [RCV001005384] Chr2:239914717..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239860877-241385960) copy number loss Poland anomaly [RCV001291955] Chr2:239860877..241385960 [GRCh37]
Chr2:2q37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4449 AgrOrtholog
COSMIC GPC1 COSMIC
Ensembl Genes ENSG00000063660 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264039 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389276 UniProtKB/TrEMBL
  ENSP00000390242 UniProtKB/TrEMBL
  ENSP00000392629 UniProtKB/TrEMBL
  ENSP00000410251 UniProtKB/TrEMBL
  ENSP00000415077 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264039 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000420138 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000425056 UniProtKB/TrEMBL
  ENST00000426280 UniProtKB/TrEMBL
  ENST00000427506 UniProtKB/TrEMBL
  ENST00000455111 UniProtKB/TrEMBL
GTEx ENSG00000063660 GTEx
HGNC ID HGNC:4449 ENTREZGENE
Human Proteome Map GPC1 Human Proteome Map
InterPro Glypican UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glypican-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glypican_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2817 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2817 ENTREZGENE
OMIM 600395 OMIM
PANTHER PTHR10822 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10822:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glypican UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28830 PharmGKB
PROSITE GLYPICAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R4D5_HUMAN UniProtKB/TrEMBL
  A0A384NPH9_HUMAN UniProtKB/TrEMBL
  C9J4Y6_HUMAN UniProtKB/TrEMBL
  GPC1_HUMAN UniProtKB/Swiss-Prot
  H7BZE9_HUMAN UniProtKB/TrEMBL
  H7BZL4_HUMAN UniProtKB/TrEMBL
  H7C024_HUMAN UniProtKB/TrEMBL
  H7C410 ENTREZGENE, UniProtKB/TrEMBL
  P35052 ENTREZGENE
UniProt Secondary B3KTD1 UniProtKB/Swiss-Prot
  Q53QM4 UniProtKB/Swiss-Prot