PTPRC (protein tyrosine phosphatase receptor type C) - Rat Genome Database
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Gene: PTPRC (protein tyrosine phosphatase receptor type C) Homo sapiens
Analyze
Symbol: PTPRC
Name: protein tyrosine phosphatase receptor type C
RGD ID: 736371
HGNC Page HGNC
Description: Exhibits cytoskeletal protein binding activity; protein kinase binding activity; and protein tyrosine phosphatase activity. Involved in several processes, including hematopoietic or lymphoid organ development; positive regulation of cell population proliferation; and regulation of protein kinase activity. Localizes to bleb and external side of plasma membrane. Implicated in hepatitis C; multiple sclerosis; severe combined immunodeficiency; and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B220; CD45; CD45 antigen; CD45R; glycoprotein; GP180; L-CA; LCA; leukocyte common antigen; leukocyte-common antigen; LY5; protein tyrosine phosphatase, receptor type, c polypeptide; receptor-type tyrosine-protein phosphatase C; T200; T200 glycoprotein; T200 leukocyte common antigen
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 Ensembl1198,638,457 - 198,757,476 (+)EnsemblGRCh38hg38GRCh38
GRCh381198,639,025 - 198,757,476 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371198,608,098 - 198,726,605 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361196,874,760 - 196,993,168 (+)NCBINCBI36hg18NCBI36
Build 341195,339,881 - 195,393,989NCBI
Celera1171,730,687 - 171,849,073 (+)NCBI
Cytogenetic Map1q31.3-q32.1NCBI
HuRef1169,775,326 - 169,893,838 (+)NCBIHuRef
CHM1_11200,030,413 - 200,148,903 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
allyl methyl disulfide  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
beauvericin  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
Calcimycin  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cyclophosphamide  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dimethylarsinous acid  (EXP)
enniatin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folpet  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
histamine  (EXP)
isotretinoin  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
pirinixic acid  (ISO)
silicon dioxide  (EXP,ISO)
sirolimus  (ISO)
sodium dichromate  (ISO)
Soman  (ISO)
succimer  (ISO)
tamibarotene  (EXP)
tebuconazole  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
triprolidine  (EXP)
Triptolide  (ISO)
tungsten  (ISO)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of MAPK activity  (IEA)
B cell differentiation  (ISS)
B cell proliferation  (ISS)
B cell receptor signaling pathway  (ISS)
bone marrow development  (IMP)
calcium-mediated signaling using intracellular calcium source  (ISS)
cell cycle phase transition  (IMP)
cell surface receptor signaling pathway  (TAS)
cellular response to extracellular stimulus  (ISS)
defense response to virus  (ISS)
dephosphorylation  (ISS)
DN2 thymocyte differentiation  (TAS)
hematopoietic progenitor cell differentiation  (IMP)
heterotypic cell-cell adhesion  (IEA)
leukocyte cell-cell adhesion  (IEA)
natural killer cell differentiation  (ISS)
negative regulation of cell adhesion involved in substrate-bound cell migration  (IMP)
negative regulation of cytokine-mediated signaling pathway  (ISS)
negative regulation of ERK1 and ERK2 cascade  (ISS)
negative regulation of interleukin-2 production  (ISS)
negative regulation of microglial cell activation  (TAS)
negative regulation of peptidyl-tyrosine phosphorylation  (ISO)
negative regulation of protein autophosphorylation  (IEA)
negative regulation of protein kinase activity  (IBA,IDA,ISS)
negative regulation of protein tyrosine kinase activity  (ISS)
negative regulation of T cell mediated cytotoxicity  (ISS)
negative thymic T cell selection  (IEA)
neutrophil degranulation  (TAS)
peptidyl-tyrosine dephosphorylation  (IEA)
plasma membrane raft distribution  (ISS)
positive regulation of alpha-beta T cell proliferation  (IEA)
positive regulation of antigen receptor-mediated signaling pathway  (ISS)
positive regulation of B cell proliferation  (IMP)
positive regulation of ERK1 and ERK2 cascade  (ISS)
positive regulation of extrinsic apoptotic signaling pathway  (IEA)
positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis  (ISS)
positive regulation of gamma-delta T cell differentiation  (IEA)
positive regulation of hematopoietic stem cell migration  (IMP)
positive regulation of humoral immune response mediated by circulating immunoglobulin  (IEA)
positive regulation of interleukin-2 production  (ISS)
positive regulation of isotype switching to IgG isotypes  (IEA)
positive regulation of MAPK cascade  (ISS)
positive regulation of peptidyl-tyrosine phosphorylation  (IBA,ISS)
positive regulation of protein kinase activity  (NAS)
positive regulation of protein tyrosine phosphatase activity  (ISS)
positive regulation of stem cell proliferation  (IMP)
positive regulation of T cell differentiation  (ISO)
positive regulation of T cell mediated cytotoxicity  (IEA)
positive regulation of T cell mediated immunity  (ISO)
positive regulation of T cell proliferation  (ISS)
positive regulation of tumor necrosis factor production  (ISS)
positive thymic T cell selection  (IEA)
protein dephosphorylation  (IBA,ISS)
regulation of cell cycle  (ISS)
regulation of extrinsic apoptotic signaling pathway  (ISO)
regulation of gene expression  (ISS)
regulation of humoral immune response mediated by circulating immunoglobulin  (ISO)
regulation of interleukin-8 production  (IDA)
regulation of phagocytosis  (IDA)
regulation of protein tyrosine kinase activity  (IDA)
regulation of receptor signaling pathway via JAK-STAT  (IGI)
release of sequestered calcium ion into cytosol  (ISS)
response to gamma radiation  (IEA)
stem cell development  (IMP)
T cell activation  (TAS)
T cell differentiation  (ISS)
T cell proliferation  (IEA)
T cell receptor signaling pathway  (IDA,IEA,TAS)
viral process  (IEA)

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

Additional References at PubMed
PMID:1355979   PMID:1373652   PMID:1648262   PMID:1655467   PMID:1680916   PMID:1695146   PMID:1793833   PMID:1834739   PMID:1970422   PMID:1976695   PMID:2169617   PMID:2524382  
PMID:2531281   PMID:2550143   PMID:2824653   PMID:2845400   PMID:2853967   PMID:2956090   PMID:2971730   PMID:7499298   PMID:7507203   PMID:7516335   PMID:7526385   PMID:7537381  
PMID:7539755   PMID:7737297   PMID:7961877   PMID:8157290   PMID:8473339   PMID:8537410   PMID:8557683   PMID:8570203   PMID:8576115   PMID:8663450   PMID:8703037   PMID:8955171  
PMID:8980254   PMID:9148925   PMID:9197241   PMID:9368621   PMID:9403695   PMID:9533446   PMID:9535845   PMID:9573028   PMID:9624153   PMID:9973453   PMID:10066810   PMID:10228003  
PMID:10229804   PMID:10330160   PMID:10358156   PMID:10369126   PMID:10415025   PMID:10415030   PMID:10473580   PMID:10490978   PMID:10683443   PMID:10700239   PMID:10702677   PMID:10921916  
PMID:11201744   PMID:11254687   PMID:11369760   PMID:11528386   PMID:11548742   PMID:11551930   PMID:11564800   PMID:11778694   PMID:11804554   PMID:11827988   PMID:11841494   PMID:11862398  
PMID:11877294   PMID:11909961   PMID:11975983   PMID:11994288   PMID:12008046   PMID:12022705   PMID:12028593   PMID:12073144   PMID:12100025   PMID:12147336   PMID:12354383   PMID:12370829  
PMID:12376545   PMID:12386161   PMID:12393728   PMID:12430875   PMID:12477932   PMID:12496963   PMID:12499376   PMID:12519755   PMID:12519789   PMID:12556471   PMID:12560083   PMID:12574355  
PMID:12589038   PMID:12589045   PMID:12595907   PMID:12618866   PMID:12626536   PMID:12633939   PMID:12716971   PMID:12820694   PMID:12864992   PMID:12880639   PMID:14525771   PMID:14565647  
PMID:14625311   PMID:14631169   PMID:14636588   PMID:14641523   PMID:14684825   PMID:14726805   PMID:14979481   PMID:14983037   PMID:15014144   PMID:15018649   PMID:15057492   PMID:15085197  
PMID:15095367   PMID:15214936   PMID:15231748   PMID:15240561   PMID:15275963   PMID:15302935   PMID:15314282   PMID:15333587   PMID:15548260   PMID:15557316   PMID:15584483   PMID:15603882  
PMID:15624328   PMID:15626731   PMID:15661907   PMID:15684325   PMID:15687496   PMID:15808544   PMID:15946252   PMID:15960938   PMID:15963758   PMID:15978577   PMID:16172127   PMID:16247487  
PMID:16269626   PMID:16332974   PMID:16341674   PMID:16344560   PMID:16360841   PMID:16378074   PMID:16393978   PMID:16503409   PMID:16505159   PMID:16524887   PMID:16538473   PMID:16857986  
PMID:16955142   PMID:16998493   PMID:16999868   PMID:17122895   PMID:17172930   PMID:17213291   PMID:17242371   PMID:17378731   PMID:17524482   PMID:17591854   PMID:17635802   PMID:17656643  
PMID:17692374   PMID:17803443   PMID:17823079   PMID:17897956   PMID:18029348   PMID:18157742   PMID:18174230   PMID:18292296   PMID:18312479   PMID:18511809   PMID:18634151   PMID:18669861  
PMID:18680516   PMID:18719244   PMID:18840711   PMID:18992193   PMID:19059880   PMID:19111528   PMID:19167335   PMID:19246294   PMID:19332764   PMID:19454697   PMID:19481264   PMID:19546439  
PMID:19585516   PMID:19635795   PMID:19879912   PMID:19898481   PMID:19946888   PMID:20093141   PMID:20119835   PMID:20139978   PMID:20156100   PMID:20164196   PMID:20191119   PMID:20231690  
PMID:20309874   PMID:20458337   PMID:20505149   PMID:20932480   PMID:21054833   PMID:21067564   PMID:21106704   PMID:21179414   PMID:21278234   PMID:21507955   PMID:21599592   PMID:21768350  
PMID:21818290   PMID:21873635   PMID:21911094   PMID:21952639   PMID:21952740   PMID:22171268   PMID:22174689   PMID:22268729   PMID:22386990   PMID:22438252   PMID:22458809   PMID:22524693  
PMID:22689986   PMID:22783574   PMID:22821963   PMID:22937208   PMID:23065155   PMID:23171577   PMID:23206327   PMID:23394998   PMID:23396948   PMID:23733486   PMID:23747721   PMID:23840798  
PMID:23911702   PMID:23953137   PMID:23997015   PMID:24162774   PMID:24211716   PMID:24211831   PMID:24231767   PMID:24337748   PMID:24364909   PMID:24396288   PMID:24589677   PMID:24761979  
PMID:24837172   PMID:24852660   PMID:25043745   PMID:25128530   PMID:25312647   PMID:25345593   PMID:25381328   PMID:25421756   PMID:25531767   PMID:25539460   PMID:25658353   PMID:25739938  
PMID:25758468   PMID:25804232   PMID:25834819   PMID:25896535   PMID:25914252   PMID:26355564   PMID:26389592   PMID:26415521   PMID:26468019   PMID:26641092   PMID:26667768   PMID:26678911  
PMID:26994849   PMID:26998761   PMID:27056269   PMID:27074847   PMID:27375898   PMID:27601670   PMID:27718235   PMID:27748273   PMID:28025077   PMID:28628650   PMID:28655861   PMID:28735895  
PMID:28759630   PMID:28982901   PMID:29133794   PMID:29177949   PMID:29366662   PMID:29467364   PMID:29549706   PMID:29736038   PMID:30196744   PMID:30248063   PMID:30347598   PMID:30825183  
PMID:30842149   PMID:31641081   PMID:31648475   PMID:31760539   PMID:31980649   PMID:32446033   PMID:33144569  


Genomics

Comparative Map Data
PTPRC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1198,638,457 - 198,757,476 (+)EnsemblGRCh38hg38GRCh38
GRCh381198,639,025 - 198,757,476 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371198,608,098 - 198,726,605 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361196,874,760 - 196,993,168 (+)NCBINCBI36hg18NCBI36
Build 341195,339,881 - 195,393,989NCBI
Celera1171,730,687 - 171,849,073 (+)NCBI
Cytogenetic Map1q31.3-q32.1NCBI
HuRef1169,775,326 - 169,893,838 (+)NCBIHuRef
CHM1_11200,030,413 - 200,148,903 (+)NCBICHM1_1
Ptprc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391137,990,597 - 138,103,491 (-)NCBIGRCm39mm39
GRCm381138,062,859 - 138,175,756 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1138,062,861 - 138,175,708 (-)EnsemblGRCm38mm10GRCm38
MGSCv371139,959,438 - 140,071,882 (-)NCBIGRCm37mm9NCBIm37
MGSCv361139,879,826 - 139,991,677 (-)NCBImm8
Celera1140,702,480 - 140,816,534 (-)NCBICelera
Cytogenetic Map1E4NCBI
cM Map160.73NCBI
Ptprc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01355,061,561 - 55,174,150 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1355,061,562 - 55,173,692 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01360,094,038 - 60,205,773 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41351,246,163 - 51,357,995 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11351,261,097 - 51,309,893 (-)NCBI
Celera1349,881,478 - 49,993,142 (-)NCBICelera
Cytogenetic Map13q13NCBI
Ptprc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540635,005,214 - 35,129,552 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540635,005,577 - 35,127,395 (+)NCBIChiLan1.0ChiLan1.0
PTPRC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11178,555,803 - 178,674,089 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1178,556,104 - 178,672,994 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01174,246,389 - 174,364,893 (+)NCBIMhudiblu_PPA_v0panPan3
PTPRC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl74,137,728 - 4,282,124 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.174,155,876 - 4,282,151 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ptprc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365675,266,653 - 5,378,464 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTPRC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1021,466,373 - 21,764,560 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11021,482,984 - 21,601,627 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21026,308,772 - 26,332,086 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PTPRC
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12530,655,014 - 30,777,367 (-)NCBI
ChlSab1.1 Ensembl2530,653,044 - 30,777,303 (-)Ensembl
Ptprc
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247981,700,732 - 1,814,603 (-)NCBI

Position Markers
D1S1660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,611,347 - 198,611,574UniSTSGRCh37
Build 361196,877,970 - 196,878,197RGDNCBI36
Celera1171,733,897 - 171,734,129RGD
Cytogenetic Map1q31-q32UniSTS
HuRef1169,778,575 - 169,778,814UniSTS
Marshfield Genetic Map1212.44RGD
Marshfield Genetic Map1212.44UniSTS
deCODE Assembly Map1194.98UniSTS
Whitehead-RH Map1817.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,620,404 - 198,620,651UniSTSGRCh37
GRCh371198,620,398 - 198,620,667UniSTSGRCh37
Build 361196,887,027 - 196,887,274RGDNCBI36
Celera1171,742,954 - 171,743,223UniSTS
Celera1171,742,960 - 171,743,207RGD
Cytogenetic Map1q25.3-q31.1UniSTS
Cytogenetic Map1q31-q32UniSTS
HuRef1169,787,631 - 169,787,898UniSTS
HuRef1169,787,637 - 169,787,882UniSTS
Marshfield Genetic Map1212.44UniSTS
Marshfield Genetic Map1212.44RGD
Genethon Genetic Map1216.5UniSTS
deCODE Assembly Map1194.98UniSTS
GeneMap99-GB4 RH Map1660.6UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11646.2UniSTS
GeneMap99-G3 RH Map17650.0UniSTS
RH68702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,725,076 - 198,725,235UniSTSGRCh37
Build 361196,991,699 - 196,991,858RGDNCBI36
Celera1171,847,604 - 171,847,763RGD
Cytogenetic Map1q31-q32UniSTS
HuRef1169,892,309 - 169,892,468UniSTS
GeneMap99-GB4 RH Map1660.6UniSTS
RH98676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,634,701 - 198,634,838UniSTSGRCh37
Build 361196,901,324 - 196,901,461RGDNCBI36
Celera1171,757,230 - 171,757,367RGD
Cytogenetic Map1q31-q32UniSTS
HuRef1169,801,930 - 169,802,067UniSTS
GeneMap99-GB4 RH Map1660.56UniSTS
SHGC-82196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,720,201 - 198,720,519UniSTSGRCh37
Build 361196,986,824 - 196,987,142RGDNCBI36
Celera1171,842,729 - 171,843,047RGD
Cytogenetic Map1q31-q32UniSTS
HuRef1169,887,430 - 169,887,748UniSTS
TNG Radiation Hybrid Map197334.0UniSTS
SHGC-150577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,620,396 - 198,620,667UniSTSGRCh37
Build 361196,887,019 - 196,887,290RGDNCBI36
Celera1171,742,952 - 171,743,223RGD
Cytogenetic Map1q31-q32UniSTS
HuRef1169,787,629 - 169,787,898UniSTS
TNG Radiation Hybrid Map197287.0UniSTS
RH45541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,723,753 - 198,723,872UniSTSGRCh37
Build 361196,990,376 - 196,990,495RGDNCBI36
Celera1171,846,281 - 171,846,400RGD
Cytogenetic Map1q31-q32UniSTS
HuRef1169,890,986 - 169,891,105UniSTS
GeneMap99-GB4 RH Map1661.87UniSTS
PMC116441P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,665,802 - 198,666,061UniSTSGRCh37
Build 361196,932,425 - 196,932,684RGDNCBI36
Celera1171,788,330 - 171,788,589RGD
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map1q31-q32UniSTS
HuRef1169,833,029 - 169,833,288UniSTS
PTPRC_1163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,725,698 - 198,726,354UniSTSGRCh37
Build 361196,992,321 - 196,992,977RGDNCBI36
Celera1171,848,226 - 171,848,882RGD
HuRef1169,892,931 - 169,893,587UniSTS
AL010096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,650,884 - 198,651,037UniSTSGRCh37
Build 361196,917,507 - 196,917,660RGDNCBI36
Celera1171,773,413 - 171,773,566RGD
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map1q31-q32UniSTS
HuRef1169,818,112 - 169,818,265UniSTS
RH70956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,725,866 - 198,726,023UniSTSGRCh37
Build 361196,992,489 - 196,992,646RGDNCBI36
Celera1171,848,394 - 171,848,551RGD
Cytogenetic Map1q31-q32UniSTS
HuRef1169,893,099 - 169,893,256UniSTS
GeneMap99-GB4 RH Map1660.6UniSTS
STS-T93530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,711,001 - 198,711,096UniSTSGRCh37
Build 361196,977,624 - 196,977,719RGDNCBI36
Celera1171,833,529 - 171,833,624RGD
Cytogenetic Map1q31-q32UniSTS
HuRef1169,878,229 - 169,878,324UniSTS
GeneMap99-GB4 RH Map1660.6UniSTS
SHGC-76094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,697,000 - 198,697,156UniSTSGRCh37
Build 361196,963,623 - 196,963,779RGDNCBI36
Celera1171,819,528 - 171,819,684RGD
Cytogenetic Map1q31-q32UniSTS
HuRef1169,864,229 - 169,864,385UniSTS
TNG Radiation Hybrid Map197316.0UniSTS
GeneMap99-GB4 RH Map1660.56UniSTS
D1S413  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q31-q32UniSTS
NCBI RH Map11646.2UniSTS
GeneMap99-G3 RH Map17650.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4106
Count of miRNA genes:943
Interacting mature miRNAs:1114
Transcripts:ENST00000348564, ENST00000352140, ENST00000367364, ENST00000367367, ENST00000367376, ENST00000367379, ENST00000391970, ENST00000413409, ENST00000418674, ENST00000427110, ENST00000442510, ENST00000462363, ENST00000484135, ENST00000491302, ENST00000529828, ENST00000530727, ENST00000594404, ENST00000598951
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.


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 2 1 3
Medium 396 1124 295 119 1864 89 591 36 342 109 185 830 32 764 214 3 2
Low 1920 1771 1398 488 55 355 3264 1794 2863 260 1159 572 135 1 440 2329 1
Below cutoff 27 94 18 10 20 11 304 349 489 15 40 68 1 245

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_052021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA403163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA904360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF492459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY567999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC148257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM791051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA670254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA819314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA948670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC921483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD063885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000348564   ⟹   ENSP00000306782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,638,968 - 198,757,283 (+)Ensembl
RefSeq Acc Id: ENST00000367364   ⟹   ENSP00000356334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,097 - 198,693,206 (+)Ensembl
RefSeq Acc Id: ENST00000367367   ⟹   ENSP00000356337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,095 - 198,735,252 (+)Ensembl
RefSeq Acc Id: ENST00000367379   ⟹   ENSP00000356349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,638,457 - 198,708,157 (+)Ensembl
RefSeq Acc Id: ENST00000391970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,288 - 198,703,346 (+)Ensembl
RefSeq Acc Id: ENST00000413409   ⟹   ENSP00000405494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,097 - 198,695,171 (+)Ensembl
RefSeq Acc Id: ENST00000418674   ⟹   ENSP00000393360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,162 - 198,699,620 (+)Ensembl
RefSeq Acc Id: ENST00000427110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,288 - 198,703,346 (+)Ensembl
RefSeq Acc Id: ENST00000442510   ⟹   ENSP00000411355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,040 - 198,757,476 (+)Ensembl
RefSeq Acc Id: ENST00000462363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,073 - 198,703,874 (+)Ensembl
RefSeq Acc Id: ENST00000484135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,696,881 - 198,700,146 (+)Ensembl
RefSeq Acc Id: ENST00000491302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,712,790 - 198,718,299 (+)Ensembl
RefSeq Acc Id: ENST00000529828   ⟹   ENSP00000469141
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,104 - 198,735,252 (+)Ensembl
RefSeq Acc Id: ENST00000530727   ⟹   ENSP00000433536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,019 - 198,732,556 (+)Ensembl
RefSeq Acc Id: ENST00000643513   ⟹   ENSP00000494132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,638,723 - 198,706,875 (+)Ensembl
RefSeq Acc Id: ENST00000645247   ⟹   ENSP00000494327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,639,046 - 198,704,485 (+)Ensembl
RefSeq Acc Id: ENST00000646230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1198,752,355 - 198,754,457 (+)Ensembl
RefSeq Acc Id: NM_001267798   ⟹   NP_001254727
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381198,639,040 - 198,695,171 (+)NCBI
HuRef1169,775,326 - 169,893,838 (+)NCBI
CHM1_11200,030,413 - 200,086,598 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002838   ⟹   NP_002829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381198,639,040 - 198,757,476 (+)NCBI
GRCh371198,608,098 - 198,726,605 (+)NCBI
Build 361196,874,760 - 196,993,168 (+)NCBI Archive
HuRef1169,775,326 - 169,893,838 (+)NCBI
CHM1_11200,030,413 - 200,148,903 (+)NCBI
Sequence:
RefSeq Acc Id: NM_080921   ⟹   NP_563578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381198,639,040 - 198,757,476 (+)NCBI
GRCh371198,608,098 - 198,726,605 (+)NCBI
Build 361196,874,760 - 196,993,168 (+)NCBI Archive
HuRef1169,775,326 - 169,893,838 (+)NCBI
CHM1_11200,030,413 - 200,148,903 (+)NCBI
Sequence:
RefSeq Acc Id: NR_052021
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381198,639,040 - 198,693,206 (+)NCBI
GRCh371198,608,098 - 198,726,605 (+)NCBI
HuRef1169,775,326 - 169,893,838 (+)NCBI
CHM1_11200,030,413 - 200,084,633 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711472   ⟹   XP_006711535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381198,639,043 - 198,757,283 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711473   ⟹   XP_006711536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381198,639,025 - 198,757,283 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711474   ⟹   XP_006711537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381198,639,025 - 198,757,283 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001254727 (Get FASTA)   NCBI Sequence Viewer  
  NP_002829 (Get FASTA)   NCBI Sequence Viewer  
  NP_563578 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711535 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711536 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711537 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA59497 (Get FASTA)   NCBI Sequence Viewer  
  AAD15274 (Get FASTA)   NCBI Sequence Viewer  
  AAD15275 (Get FASTA)   NCBI Sequence Viewer  
  AAG26082 (Get FASTA)   NCBI Sequence Viewer  
  AAH14239 (Get FASTA)   NCBI Sequence Viewer  
  AAH17863 (Get FASTA)   NCBI Sequence Viewer  
  AAI21087 (Get FASTA)   NCBI Sequence Viewer  
  AAI21088 (Get FASTA)   NCBI Sequence Viewer  
  AAI27657 (Get FASTA)   NCBI Sequence Viewer  
  AAI27658 (Get FASTA)   NCBI Sequence Viewer  
  AAI48258 (Get FASTA)   NCBI Sequence Viewer  
  AAM12758 (Get FASTA)   NCBI Sequence Viewer  
  AAS46922 (Get FASTA)   NCBI Sequence Viewer  
  AAS46930 (Get FASTA)   NCBI Sequence Viewer  
  AAS46938 (Get FASTA)   NCBI Sequence Viewer  
  AAS46946 (Get FASTA)   NCBI Sequence Viewer  
  AAS46954 (Get FASTA)   NCBI Sequence Viewer  
  AAS46962 (Get FASTA)   NCBI Sequence Viewer  
  AAS75254 (Get FASTA)   NCBI Sequence Viewer  
  BAF84820 (Get FASTA)   NCBI Sequence Viewer  
  BAG61807 (Get FASTA)   NCBI Sequence Viewer  
  BAG64565 (Get FASTA)   NCBI Sequence Viewer  
  CAA68269 (Get FASTA)   NCBI Sequence Viewer  
  CAA68669 (Get FASTA)   NCBI Sequence Viewer  
  CBU30438 (Get FASTA)   NCBI Sequence Viewer  
  CBU83087 (Get FASTA)   NCBI Sequence Viewer  
  EAW91300 (Get FASTA)   NCBI Sequence Viewer  
  EAW91301 (Get FASTA)   NCBI Sequence Viewer  
  EAW91302 (Get FASTA)   NCBI Sequence Viewer  
  EAW91303 (Get FASTA)   NCBI Sequence Viewer  
  P08575 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002829   ⟸   NM_002838
- Peptide Label: isoform 1 precursor
- UniProtKB: P08575 (UniProtKB/Swiss-Prot),   A0A0A0MT22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_563578   ⟸   NM_080921
- Peptide Label: isoform 2 precursor
- UniProtKB: P08575 (UniProtKB/Swiss-Prot),   X6R433 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001254727   ⟸   NM_001267798
- Peptide Label: isoform 5 precursor
- UniProtKB: M9MML4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711535   ⟸   XM_006711472
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006711536   ⟸   XM_006711473
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006711537   ⟸   XM_006711474
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000433536   ⟸   ENST00000530727
RefSeq Acc Id: ENSP00000306782   ⟸   ENST00000348564
RefSeq Acc Id: ENSP00000405494   ⟸   ENST00000413409
RefSeq Acc Id: ENSP00000411355   ⟸   ENST00000442510
RefSeq Acc Id: ENSP00000393360   ⟸   ENST00000418674
RefSeq Acc Id: ENSP00000356349   ⟸   ENST00000367379
RefSeq Acc Id: ENSP00000356337   ⟸   ENST00000367367
RefSeq Acc Id: ENSP00000356334   ⟸   ENST00000367364
RefSeq Acc Id: ENSP00000494132   ⟸   ENST00000643513
RefSeq Acc Id: ENSP00000494327   ⟸   ENST00000645247
RefSeq Acc Id: ENSP00000469141   ⟸   ENST00000529828
Promoters
RGD ID:6785152
Promoter ID:HG_KWN:6695
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000367364,   ENST00000367365,   ENST00000367366,   ENST00000367367,   ENST00000367379,   NM_002838,   NM_080921,   NM_080922,   OTTHUMT00000086816,   OTTHUMT00000086818,   OTTHUMT00000086819,   OTTHUMT00000098489,   UC001GUU.1,   UC001GUV.1,   UC001GUW.1,   UC009WZE.1,   UC009WZF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361196,874,191 - 196,874,937 (+)MPROMDB
RGD ID:6786354
Promoter ID:HG_KWN:6699
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000098707
Position:
Human AssemblyChrPosition (strand)Source
Build 361196,932,436 - 196,932,936 (+)MPROMDB
RGD ID:6786353
Promoter ID:HG_KWN:6700
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000086821
Position:
Human AssemblyChrPosition (strand)Source
Build 361196,947,611 - 196,948,111 (+)MPROMDB
RGD ID:6858504
Promoter ID:EPDNEW_H2417
Type:initiation region
Name:PTPRC_1
Description:protein tyrosine phosphatase, receptor type C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381198,639,095 - 198,639,155EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002838.5(PTPRC):c.1456A>G (p.Ser486Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000528586] Chr1:198718099 [GRCh38]
Chr1:198687228 [GRCh37]
Chr1:1q32.1
uncertain significance
PTPRC, 77C-G single nucleotide variant Hepatitis c virus, susceptibility to [RCV000015542] Chr1:1q31-q32 risk factor
NM_002838.5(PTPRC):c.1450+1G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000015543] Chr1:198716841 [GRCh38]
Chr1:198685970 [GRCh37]
Chr1:1q32.1
pathogenic
PTPRC, 6-BP DEL, NT1168 deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000015544] Chr1:1q31-q32 pathogenic
NM_002838.5(PTPRC):c.2779C>G (p.Pro927Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640051] Chr1:198744135 [GRCh38]
Chr1:198713264 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.985G>A (p.Glu329Lys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640064] Chr1:198708213 [GRCh38]
Chr1:198677342 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.658+6A>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640082] Chr1:198703378 [GRCh38]
Chr1:198672507 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1033+9A>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640085] Chr1:198708270 [GRCh38]
Chr1:198677399 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.577A>G (p.Thr193Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000544148]|not specified [RCV001000365] Chr1:198702524 [GRCh38]
Chr1:198671653 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.1297G>A (p.Asp433Asn) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000547900]|not provided [RCV000757707] Chr1:198716687 [GRCh38]
Chr1:198685816 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1737G>T (p.Leu579=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000549268] Chr1:198728356 [GRCh38]
Chr1:198697485 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.4(PTPRC):c.2143-500T>A single nucleotide variant Lung cancer [RCV000090338] Chr1:198733696 [GRCh38]
Chr1:198702825 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q31.3-32.1(chr1:198608514-199646718)x1 copy number loss See cases [RCV000053951] Chr1:198608514..199646718 [GRCh38]
Chr1:198577644..199615846 [GRCh37]
Chr1:196844267..197882469 [NCBI36]
Chr1:1q31.3-32.1
pathogenic
NM_002838.5(PTPRC):c.1624A>T (p.Lys542Ter) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000054517] Chr1:198718267 [GRCh38]
Chr1:198687396 [GRCh37]
Chr1:1q32.1
pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1
pathogenic
NM_002838.4(PTPRC):c.3406G>A (p.Glu1136Lys) single nucleotide variant Malignant melanoma [RCV000064432]|Malignant melanoma of skin [RCV000149702] Chr1:198752669 [GRCh38]
Chr1:198721798 [GRCh37]
Chr1:196988421 [NCBI36]
Chr1:1q32.1
not provided
NM_002838.4(PTPRC):c.1867G>A (p.Asp623Asn) single nucleotide variant Malignant melanoma [RCV000060038] Chr1:198731619 [GRCh38]
Chr1:198700748 [GRCh37]
Chr1:196967371 [NCBI36]
Chr1:1q32.1
not provided
NM_002838.5(PTPRC):c.3402C>T (p.Pro1134=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000755378]|not specified [RCV000127660] Chr1:198752665 [GRCh38]
Chr1:198721794 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.367G>C (p.Asp123His) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000555361]|not specified [RCV000127661] Chr1:198699632 [GRCh38]
Chr1:198668761 [GRCh37]
Chr1:1q31.3
benign
NM_002838.5(PTPRC):c.886A>C (p.Ile296Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000556114]|not specified [RCV000127662] Chr1:198706934 [GRCh38]
Chr1:198676063 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.1029G>A (p.Gln343=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000547079]|not specified [RCV000127663] Chr1:198708257 [GRCh38]
Chr1:198677386 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.1710T>A (p.His570Gln) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000536624]|not specified [RCV000127664] Chr1:198722466 [GRCh38]
Chr1:198691595 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.1829+14T>A single nucleotide variant not specified [RCV000127665] Chr1:198728462 [GRCh38]
Chr1:198697591 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000696429]|not provided [RCV000171165] Chr1:198754304 [GRCh38]
Chr1:198723433 [GRCh37]
Chr1:1q32.1
likely pathogenic|uncertain significance
NM_002838.4:c.1688C>T single nucleotide variant Malignant melanoma of skin [RCV000149698] Chr1:1q31.3-32.1 not provided
GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1 copy number loss See cases [RCV000135590] Chr1:189034483..199615866 [GRCh38]
Chr1:189003614..199584994 [GRCh37]
Chr1:187270237..197851617 [NCBI36]
Chr1:1q31.1-32.1
pathogenic
GRCh38/hg38 1q31.3-32.1(chr1:198655911-198899227)x1 copy number loss See cases [RCV000139624] Chr1:198655911..198899227 [GRCh38]
Chr1:198625040..198868356 [GRCh37]
Chr1:196891663..197134979 [NCBI36]
Chr1:1q31.3-32.1
uncertain significance
NM_002838.4(PTPRC):c.1659+1G>A single nucleotide variant Malignant melanoma of skin [RCV000149697] Chr1:198718303 [GRCh38]
Chr1:198687432 [GRCh37]
not provided
NM_002838.4(PTPRC):c.1721-9C>T single nucleotide variant Malignant melanoma of skin [RCV000149699] Chr1:198728331 [GRCh38]
Chr1:198697460 [GRCh37]
not provided
NM_002838.4(PTPRC):c.1972C>T (p.Gln658Ter) single nucleotide variant Malignant melanoma of skin [RCV000149700] Chr1:198731724 [GRCh38]
Chr1:198700853 [GRCh37]
not provided
NM_002838.4(PTPRC):c.2689C>T (p.Gln897Ter) single nucleotide variant Malignant melanoma of skin [RCV000149701] Chr1:198742359 [GRCh38]
Chr1:198711488 [GRCh37]
not provided
NM_002838.4(PTPRC):c.3458C>T (p.Ser1153Phe) single nucleotide variant Malignant melanoma of skin [RCV000149703] Chr1:198752721 [GRCh38]
Chr1:198721850 [GRCh37]
not provided
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
NM_002838.5(PTPRC):c.2142+7A>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000768297] Chr1:198732563 [GRCh38]
Chr1:198701692 [GRCh37]
Chr1:1q32.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002838.5(PTPRC):c.2626G>A (p.Glu876Lys) single nucleotide variant not provided [RCV000519751] Chr1:198742296 [GRCh38]
Chr1:198711425 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3851C>T (p.Thr1284Met) single nucleotide variant Inborn genetic diseases [RCV001265856]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001211122] Chr1:198756111 [GRCh38]
Chr1:198725240 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2490G>C (p.Leu830Phe) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001027843]|not provided [RCV000521714] Chr1:198741955 [GRCh38]
Chr1:198711084 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3509+4C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001245031]|not specified [RCV000605293] Chr1:198752776 [GRCh38]
Chr1:198721905 [GRCh37]
Chr1:1q32.1
likely benign|uncertain significance
NM_002838.5(PTPRC):c.3914G>C (p.Gly1305Ala) single nucleotide variant not provided [RCV000640069] Chr1:198756174 [GRCh38]
Chr1:198725303 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.2709C>T (p.Ile903=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640087] Chr1:198744065 [GRCh38]
Chr1:198713194 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.352C>A (p.Pro118Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640055] Chr1:198699617 [GRCh38]
Chr1:198668746 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.2998G>A (p.Asp1000Asn) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640062] Chr1:198749475 [GRCh38]
Chr1:198718604 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3073-6A>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640067] Chr1:198750486 [GRCh38]
Chr1:198719615 [GRCh37]
Chr1:1q32.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002838.5(PTPRC):c.154A>G (p.Thr52Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640075] Chr1:198696765 [GRCh38]
Chr1:198665894 [GRCh37]
Chr1:1q31.3
benign
NM_002838.5(PTPRC):c.1864+8T>C single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640086] Chr1:198729179 [GRCh38]
Chr1:198698308 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.3465A>C (p.Glu1155Asp) single nucleotide variant not provided [RCV000757708] Chr1:198752728 [GRCh38]
Chr1:198721857 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2395A>T (p.Ile799Phe) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000541951] Chr1:198735244 [GRCh38]
Chr1:198704373 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_002838.5(PTPRC):c.756A>C (p.Leu252=) single nucleotide variant not specified [RCV000423881] Chr1:198706804 [GRCh38]
Chr1:198675933 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.132A>G (p.Pro44=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640077]|not specified [RCV000441463] Chr1:198696743 [GRCh38]
Chr1:198665872 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000768296]|not provided [RCV000441811] Chr1:198706830 [GRCh38]
Chr1:198675959 [GRCh37]
Chr1:1q32.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002838.5(PTPRC):c.3780T>C (p.Asn1260=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000531535]|not specified [RCV000442732] Chr1:198756040 [GRCh38]
Chr1:198725169 [GRCh37]
Chr1:1q32.1
benign
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_002838.5(PTPRC):c.177C>G (p.Pro59=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000524835]|not specified [RCV000429422] Chr1:198696788 [GRCh38]
Chr1:198665917 [GRCh37]
Chr1:1q31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002838.5(PTPRC):c.3813C>A (p.Leu1271=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000876667]|not specified [RCV000432994] Chr1:198756073 [GRCh38]
Chr1:198725202 [GRCh37]
Chr1:1q32.1
benign|likely benign
NM_002838.5(PTPRC):c.1052A>G (p.Asn351Ser) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000559618]|not specified [RCV000440086] Chr1:198709705 [GRCh38]
Chr1:198678834 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.3510-3T>C single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000538206]|not specified [RCV000429891] Chr1:198754266 [GRCh38]
Chr1:198723395 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.2526C>T (p.Ser842=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000692876]|not specified [RCV000433327] Chr1:198741991 [GRCh38]
Chr1:198711120 [GRCh37]
Chr1:1q32.1
likely benign|uncertain significance
NM_002838.5(PTPRC):c.1829+19T>A single nucleotide variant not specified [RCV000422946] Chr1:198728467 [GRCh38]
Chr1:198697596 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.2404-13A>G single nucleotide variant not specified [RCV000433636] Chr1:198741856 [GRCh38]
Chr1:198710985 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.2066-14T>C single nucleotide variant not specified [RCV000430372] Chr1:198732466 [GRCh38]
Chr1:198701595 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.1268C>T (p.Thr423Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000535842]|not specified [RCV000437442] Chr1:198713049 [GRCh38]
Chr1:198682178 [GRCh37]
Chr1:1q32.1
benign|likely benign
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_002838.5(PTPRC):c.1075C>G (p.Leu359Val) single nucleotide variant not provided [RCV000481445] Chr1:198709728 [GRCh38]
Chr1:198678857 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_002838.5(PTPRC):c.692A>G (p.Lys231Arg) single nucleotide variant not specified [RCV000506117] Chr1:198706740 [GRCh38]
Chr1:198675869 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.982A>G (p.Ile328Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640052]|not specified [RCV000506400] Chr1:198708210 [GRCh38]
Chr1:198677339 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1818G>A (p.Lys606=) single nucleotide variant not provided [RCV000872061]|not specified [RCV000506913] Chr1:198728437 [GRCh38]
Chr1:198697566 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001083271]|not provided [RCV000755379] Chr1:198755930 [GRCh38]
Chr1:198725059 [GRCh37]
Chr1:1q32.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002838.5(PTPRC):c.933T>C (p.Cys311=) single nucleotide variant not provided [RCV000913788]|not specified [RCV000508006] Chr1:198708161 [GRCh38]
Chr1:198677290 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.2320C>T (p.Arg774Trp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000698219]|not provided [RCV000757706] Chr1:198735169 [GRCh38]
Chr1:198704298 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2543C>T (p.Pro848Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000554554] Chr1:198742008 [GRCh38]
Chr1:198711137 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2305A>G (p.Met769Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000698806] Chr1:198735154 [GRCh38]
Chr1:198704283 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_002838.5(PTPRC):c.1471A>C (p.Met491Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640056] Chr1:198718114 [GRCh38]
Chr1:198687243 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2793C>A (p.Asn931Lys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640063] Chr1:198744149 [GRCh38]
Chr1:198713278 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2848-5_2848-4del deletion not specified [RCV000606801] Chr1:198748090..198748091 [GRCh38]
Chr1:198717219..198717220 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.920A>G (p.Gln307Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640058] Chr1:198708148 [GRCh38]
Chr1:198677277 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2044C>G (p.Arg682Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640059] Chr1:198732369 [GRCh38]
Chr1:198701498 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1599G>C (p.Ser533=) single nucleotide variant not provided [RCV000640070] Chr1:198718242 [GRCh38]
Chr1:198687371 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.1704A>G (p.Leu568=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640074] Chr1:198722460 [GRCh38]
Chr1:198691589 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640083]|not provided [RCV000757704]|not specified [RCV000616830] Chr1:198718211 [GRCh38]
Chr1:198687340 [GRCh37]
Chr1:1q32.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001089279]|not provided [RCV000757705]|not specified [RCV000610984] Chr1:198702513 [GRCh38]
Chr1:198671642 [GRCh37]
Chr1:1q32.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002838.5(PTPRC):c.2403+1G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640060] Chr1:198735253 [GRCh38]
Chr1:198704382 [GRCh37]
Chr1:1q32.1
likely pathogenic
NM_002838.5(PTPRC):c.768G>C (p.Glu256Asp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640065] Chr1:198706816 [GRCh38]
Chr1:198675945 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.646A>C (p.Thr216Pro) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640068] Chr1:198703360 [GRCh38]
Chr1:198672489 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.837G>A (p.Ala279=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640072] Chr1:198706885 [GRCh38]
Chr1:198676014 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.2628G>A (p.Glu876=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640076] Chr1:198742298 [GRCh38]
Chr1:198711427 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.1584G>A (p.Leu528=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640078] Chr1:198718227 [GRCh38]
Chr1:198687356 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.3126C>T (p.Thr1042=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000640080] Chr1:198750545 [GRCh38]
Chr1:198719674 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.2044C>T (p.Arg682Cys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000698812] Chr1:198732369 [GRCh38]
Chr1:198701498 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1441A>G (p.Lys481Glu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000697731] Chr1:198716831 [GRCh38]
Chr1:198685960 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.535G>A (p.Ala179Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000689974] Chr1:198702482 [GRCh38]
Chr1:198671611 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.847A>G (p.Ile283Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000687956] Chr1:198706895 [GRCh38]
Chr1:198676024 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.995C>T (p.Thr332Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000688357] Chr1:198708223 [GRCh38]
Chr1:198677352 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1321C>A (p.Leu441Met) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000705389] Chr1:198716711 [GRCh38]
Chr1:198685840 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.700A>G (p.Asn234Asp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000699733] Chr1:198706748 [GRCh38]
Chr1:198675877 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3404A>C (p.Lys1135Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000689391] Chr1:198752667 [GRCh38]
Chr1:198721796 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2834A>G (p.Glu945Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000699112] Chr1:198744190 [GRCh38]
Chr1:198713319 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2607G>A (p.Met869Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000697329] Chr1:198742277 [GRCh38]
Chr1:198711406 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.260C>T (p.Pro87Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000695229] Chr1:198696871 [GRCh38]
Chr1:198666000 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.1357A>T (p.Thr453Ser) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000695312] Chr1:198716747 [GRCh38]
Chr1:198685876 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2495T>C (p.Leu832Pro) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000695822] Chr1:198741960 [GRCh38]
Chr1:198711089 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1003A>G (p.Thr335Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000691500] Chr1:198708231 [GRCh38]
Chr1:198677360 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3844G>C (p.Glu1282Gln) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000696847] Chr1:198756104 [GRCh38]
Chr1:198725233 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1062T>G (p.Ile354Met) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000703414] Chr1:198709715 [GRCh38]
Chr1:198678844 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1556A>G (p.His519Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000701442] Chr1:198718199 [GRCh38]
Chr1:198687328 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
NM_002838.5(PTPRC):c.1770A>G (p.Thr590=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000977302] Chr1:198728389 [GRCh38]
Chr1:198697518 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.1628A>T (p.Asp543Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001055504] Chr1:198718271 [GRCh38]
Chr1:198687400 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2078G>A (p.Arg693His) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001055693] Chr1:198732492 [GRCh38]
Chr1:198701621 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1507G>A (p.Val503Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001057409] Chr1:198718150 [GRCh38]
Chr1:198687279 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.39C>T (p.Gly13=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000877306] Chr1:198639307 [GRCh38]
Chr1:198608437 [GRCh37]
Chr1:1q31.3
benign
NM_002838.5(PTPRC):c.1140C>T (p.Asn380=) single nucleotide variant not provided [RCV000865083] Chr1:198709793 [GRCh38]
Chr1:198678922 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.1321C>T (p.Leu441=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000946094] Chr1:198716711 [GRCh38]
Chr1:198685840 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.3208-8T>C single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000893506] Chr1:198752241 [GRCh38]
Chr1:198721370 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.2244T>C (p.Ile748=) single nucleotide variant not provided [RCV000944478] Chr1:198734392 [GRCh38]
Chr1:198703521 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.3537T>C (p.Phe1179=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000983710] Chr1:198754296 [GRCh38]
Chr1:198723425 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.177C>T (p.Pro59=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000951008] Chr1:198696788 [GRCh38]
Chr1:198665917 [GRCh37]
Chr1:1q31.3
likely benign
NM_002838.5(PTPRC):c.523C>T (p.His175Tyr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001043851] Chr1:198702470 [GRCh38]
Chr1:198671599 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3230G>A (p.Gly1077Glu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001038134] Chr1:198752271 [GRCh38]
Chr1:198721400 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3189A>T (p.Glu1063Asp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001050699] Chr1:198750608 [GRCh38]
Chr1:198719737 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3645C>T (p.Phe1215=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001067119] Chr1:198754404 [GRCh38]
Chr1:198723533 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2862T>C (p.Tyr954=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001034436] Chr1:198748123 [GRCh38]
Chr1:198717252 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.3156A>G (p.Gln1052=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001047094] Chr1:198750575 [GRCh38]
Chr1:198719704 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3067A>G (p.Ile1023Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001035256] Chr1:198749544 [GRCh38]
Chr1:198718673 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3383A>G (p.Glu1128Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001035287] Chr1:198752646 [GRCh38]
Chr1:198721775 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.261G>A (p.Pro87=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001070927] Chr1:198696872 [GRCh38]
Chr1:198666001 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.2295C>G (p.Tyr765Ter) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000787279] Chr1:198735144 [GRCh38]
Chr1:198704273 [GRCh37]
Chr1:1q32.1
pathogenic
NM_002838.5(PTPRC):c.659-3C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000809101] Chr1:198704469 [GRCh38]
Chr1:198673598 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.965G>C (p.Cys322Ser) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000806683] Chr1:198708193 [GRCh38]
Chr1:198677322 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1929G>A (p.Lys643=) single nucleotide variant not provided [RCV000924001] Chr1:198731681 [GRCh38]
Chr1:198700810 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.3645+7A>G single nucleotide variant not provided [RCV000917008] Chr1:198754411 [GRCh38]
Chr1:198723540 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.1591A>C (p.Asn531His) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000804482] Chr1:198718234 [GRCh38]
Chr1:198687363 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.547C>T (p.Arg183Cys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000799379] Chr1:198702494 [GRCh38]
Chr1:198671623 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.395C>G (p.Ala132Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000802790] Chr1:198699660 [GRCh38]
Chr1:198668789 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.1450+8A>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000819299] Chr1:198716848 [GRCh38]
Chr1:198685977 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3607G>T (p.Ala1203Ser) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000797833] Chr1:198754366 [GRCh38]
Chr1:198723495 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.835G>A (p.Ala279Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000814706] Chr1:198706883 [GRCh38]
Chr1:198676012 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1678G>A (p.Asp560Asn) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000803601] Chr1:198722434 [GRCh38]
Chr1:198691563 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1458C>G (p.Ser486Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000795558] Chr1:198718101 [GRCh38]
Chr1:198687230 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.712G>C (p.Asp238His) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000800241] Chr1:198706760 [GRCh38]
Chr1:198675889 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.120G>C (p.Met40Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000818463] Chr1:198696731 [GRCh38]
Chr1:198665860 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.2362_2363delinsT (p.Arg788fs) indel Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000820287] Chr1:198735211..198735212 [GRCh38]
Chr1:198704340..198704341 [GRCh37]
Chr1:1q32.1
pathogenic
NM_002838.5(PTPRC):c.337G>T (p.Ala113Ser) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000809902] Chr1:198699602 [GRCh38]
Chr1:198668731 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.190G>A (p.Glu64Lys) single nucleotide variant not provided [RCV000788152] Chr1:198696801 [GRCh38]
Chr1:198665930 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.421G>C (p.Gly141Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000818347]|not provided [RCV000788329] Chr1:198699686 [GRCh38]
Chr1:198668815 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.2309A>G (p.Glu770Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000816929] Chr1:198735158 [GRCh38]
Chr1:198704287 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2318C>G (p.Thr773Ser) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000806660] Chr1:198735167 [GRCh38]
Chr1:198704296 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1659+6A>C single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000792767] Chr1:198718308 [GRCh38]
Chr1:198687437 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.583+1G>A single nucleotide variant not provided [RCV000788236] Chr1:198702531 [GRCh38]
Chr1:198671660 [GRCh37]
Chr1:1q32.1
likely pathogenic
NM_002838.5(PTPRC):c.125G>T (p.Ser42Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000801394] Chr1:198696736 [GRCh38]
Chr1:198665865 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.1391T>C (p.Ile464Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000804558] Chr1:198716781 [GRCh38]
Chr1:198685910 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3425A>C (p.Gln1142Pro) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000801591] Chr1:198752688 [GRCh38]
Chr1:198721817 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1721A>G (p.Tyr574Cys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000811420] Chr1:198728340 [GRCh38]
Chr1:198697469 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1865A>G (p.Asp622Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000807029] Chr1:198731617 [GRCh38]
Chr1:198700746 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3179T>C (p.Met1060Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000812478] Chr1:198750598 [GRCh38]
Chr1:198719727 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.347A>C (p.Gln116Pro) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000796349] Chr1:198699612 [GRCh38]
Chr1:198668741 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.3721C>T (p.His1241Tyr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001053903] Chr1:198755981 [GRCh38]
Chr1:198725110 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1635A>G (p.Gln545=) single nucleotide variant not provided [RCV000919666] Chr1:198718278 [GRCh38]
Chr1:198687407 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.2007A>G (p.Ile669Met) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000815066] Chr1:198732332 [GRCh38]
Chr1:198701461 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2034G>T (p.Gln678His) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000796373] Chr1:198732359 [GRCh38]
Chr1:198701488 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3428T>C (p.Val1143Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000802468] Chr1:198752691 [GRCh38]
Chr1:198721820 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.879G>A (p.Lys293=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000977931] Chr1:198706927 [GRCh38]
Chr1:198676056 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.3429C>T (p.Val1143=) single nucleotide variant not provided [RCV000939919] Chr1:198752692 [GRCh38]
Chr1:198721821 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.1189A>T (p.Ile397Phe) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000819642] Chr1:198712970 [GRCh38]
Chr1:198682099 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.377C>T (p.Thr126Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000813866] Chr1:198699642 [GRCh38]
Chr1:198668771 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.2208C>G (p.Phe736Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000804078] Chr1:198734356 [GRCh38]
Chr1:198703485 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2949C>T (p.Asn983=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000871443] Chr1:198749426 [GRCh38]
Chr1:198718555 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.1642A>G (p.Thr548Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000800993] Chr1:198718285 [GRCh38]
Chr1:198687414 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.926A>G (p.His309Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001057450] Chr1:198708154 [GRCh38]
Chr1:198677283 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3853A>C (p.Ser1285Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001061477] Chr1:198756113 [GRCh38]
Chr1:198725242 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3784G>C (p.Val1262Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001210854] Chr1:198756044 [GRCh38]
Chr1:198725173 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2467G>A (p.Gly823Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001058175] Chr1:198741932 [GRCh38]
Chr1:198711061 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.24A>G (p.Lys8=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001225704] Chr1:198639292 [GRCh38]
Chr1:198608422 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.1727C>T (p.Ser576Phe) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001222543] Chr1:198728346 [GRCh38]
Chr1:198697475 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1494T>A (p.Asp498Glu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001225871] Chr1:198718137 [GRCh38]
Chr1:198687266 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2107G>T (p.Ala703Ser) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001231289] Chr1:198732521 [GRCh38]
Chr1:198701650 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3791C>T (p.Pro1264Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001231779] Chr1:198756051 [GRCh38]
Chr1:198725180 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.548G>A (p.Arg183His) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001205204] Chr1:198702495 [GRCh38]
Chr1:198671624 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2697+4T>C single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001223138] Chr1:198742371 [GRCh38]
Chr1:198711500 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3509+5G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001209385] Chr1:198752777 [GRCh38]
Chr1:198721906 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2
not provided
NM_002838.5(PTPRC):c.1477G>A (p.Val493Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001221554] Chr1:198718120 [GRCh38]
Chr1:198687249 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2519C>T (p.Ala840Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001242199] Chr1:198741984 [GRCh38]
Chr1:198711113 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1141G>A (p.Ala381Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001225528] Chr1:198709794 [GRCh38]
Chr1:198678923 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1531C>T (p.Arg511Cys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001226161] Chr1:198718174 [GRCh38]
Chr1:198687303 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.856A>G (p.Asn286Asp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001211597] Chr1:198706904 [GRCh38]
Chr1:198676033 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1 copy number loss not provided [RCV000847068] Chr1:196315481..200200856 [GRCh37]
Chr1:1q31.3-32.1
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_002838.5(PTPRC):c.2848-3C>T single nucleotide variant not provided [RCV000973806] Chr1:198748106 [GRCh38]
Chr1:198717235 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.3840T>A (p.Gly1280=) single nucleotide variant not provided [RCV000930513] Chr1:198756100 [GRCh38]
Chr1:198725229 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.114A>G (p.Ala38=) single nucleotide variant not provided [RCV000941516] Chr1:198696725 [GRCh38]
Chr1:198665854 [GRCh37]
Chr1:1q31.3
likely benign
NM_002838.5(PTPRC):c.2625C>T (p.Ala875=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000875412] Chr1:198742295 [GRCh38]
Chr1:198711424 [GRCh37]
Chr1:1q32.1
benign
NM_002838.5(PTPRC):c.583+9A>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000975753] Chr1:198702539 [GRCh38]
Chr1:198671668 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.399T>C (p.Asn133=) single nucleotide variant not provided [RCV000980779] Chr1:198699664 [GRCh38]
Chr1:198668793 [GRCh37]
Chr1:1q31.3
likely benign
NM_002838.5(PTPRC):c.1554C>T (p.Tyr518=) single nucleotide variant not provided [RCV000931483] Chr1:198718197 [GRCh38]
Chr1:198687326 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.446C>T (p.Pro149Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001225735] Chr1:198702393 [GRCh38]
Chr1:198671522 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2632A>G (p.Lys878Glu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001226406] Chr1:198742302 [GRCh38]
Chr1:198711431 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3400C>G (p.Pro1134Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001227584] Chr1:198752663 [GRCh38]
Chr1:198721792 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2837C>G (p.Ala946Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001240961] Chr1:198744193 [GRCh38]
Chr1:198713322 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3190C>A (p.Leu1064Met) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001217989] Chr1:198750609 [GRCh38]
Chr1:198719738 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3059C>A (p.Ala1020Glu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001210144] Chr1:198749536 [GRCh38]
Chr1:198718665 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3399A>G (p.Glu1133=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000934345] Chr1:198752662 [GRCh38]
Chr1:198721791 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.1020C>T (p.Tyr340=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV000912989] Chr1:198708248 [GRCh38]
Chr1:198677377 [GRCh37]
Chr1:1q32.1
likely benign
NM_002838.5(PTPRC):c.3772G>A (p.Asp1258Asn) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001053391] Chr1:198756032 [GRCh38]
Chr1:198725161 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3278C>T (p.Thr1093Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001061117] Chr1:198752319 [GRCh38]
Chr1:198721448 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.500C>T (p.Thr167Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001065960] Chr1:198702447 [GRCh38]
Chr1:198671576 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1654T>G (p.Phe552Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001208299] Chr1:198718297 [GRCh38]
Chr1:198687426 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1830-3C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001067953] Chr1:198729134 [GRCh38]
Chr1:198698263 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3551A>C (p.Asn1184Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001048871] Chr1:198754310 [GRCh38]
Chr1:198723439 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3914G>A (p.Gly1305Asp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001232324] Chr1:198756174 [GRCh38]
Chr1:198725303 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.310G>A (p.Val104Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001041749] Chr1:198699575 [GRCh38]
Chr1:198668704 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.2624C>T (p.Ala875Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001049992] Chr1:198742294 [GRCh38]
Chr1:198711423 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.667C>A (p.Pro223Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001233679] Chr1:198704480 [GRCh38]
Chr1:198673609 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1891G>A (p.Glu631Lys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001231457] Chr1:198731643 [GRCh38]
Chr1:198700772 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2641G>A (p.Val881Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001217190] Chr1:198742311 [GRCh38]
Chr1:198711440 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.2940T>A (p.Tyr980Ter) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001236197] Chr1:198749417 [GRCh38]
Chr1:198718546 [GRCh37]
Chr1:1q32.1
pathogenic
NM_002838.5(PTPRC):c.2697+6T>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001204002] Chr1:198742373 [GRCh38]
Chr1:198711502 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3304C>T (p.Arg1102Cys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001037330] Chr1:198752345 [GRCh38]
Chr1:198721474 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.52G>A (p.Asp18Asn) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001046302] Chr1:198639320 [GRCh38]
Chr1:198608450 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_002838.5(PTPRC):c.1577A>C (p.Asn526Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001215243] Chr1:198718220 [GRCh38]
Chr1:198687349 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3578A>C (p.Glu1193Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001038376] Chr1:198754337 [GRCh38]
Chr1:198723466 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1805A>G (p.Tyr602Cys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001213352] Chr1:198728424 [GRCh38]
Chr1:198697553 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1181A>G (p.Glu394Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001210850] Chr1:198712962 [GRCh38]
Chr1:198682091 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_002838.5(PTPRC):c.1462G>T (p.Val488Phe) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001035755] Chr1:198718105 [GRCh38]
Chr1:198687234 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3388C>T (p.Leu1130Phe) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001036391] Chr1:198752651 [GRCh38]
Chr1:198721780 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.3858C>T (p.Gly1286=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001233198] Chr1:198756118 [GRCh38]
Chr1:198725247 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_002838.5(PTPRC):c.1963G>C (p.Ala655Pro) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001066511] Chr1:198731715 [GRCh38]
Chr1:198700844 [GRCh37]
Chr1:1q32.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9666 AgrOrtholog
COSMIC PTPRC COSMIC
Ensembl Genes ENSG00000081237 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000262418 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000306782 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356334 UniProtKB/TrEMBL
  ENSP00000356337 UniProtKB/TrEMBL
  ENSP00000356349 UniProtKB/TrEMBL
  ENSP00000393360 UniProtKB/TrEMBL
  ENSP00000405494 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000411355 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433536 UniProtKB/TrEMBL
  ENSP00000458191 UniProtKB/TrEMBL
  ENSP00000458322 UniProtKB/Swiss-Prot
  ENSP00000458418 UniProtKB/TrEMBL
  ENSP00000458662 UniProtKB/TrEMBL
  ENSP00000458846 UniProtKB/TrEMBL
  ENSP00000461074 UniProtKB/Swiss-Prot
  ENSP00000461347 UniProtKB/TrEMBL
  ENSP00000461712 UniProtKB/TrEMBL
  ENSP00000469141 UniProtKB/TrEMBL
  ENSP00000482203 UniProtKB/TrEMBL
  ENSP00000483380 UniProtKB/TrEMBL
  ENSP00000494132 UniProtKB/TrEMBL
  ENSP00000494327 UniProtKB/TrEMBL
Ensembl Transcript ENST00000348564 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367364 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000367367 UniProtKB/TrEMBL
  ENST00000367379 UniProtKB/TrEMBL
  ENST00000413409 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000418674 UniProtKB/TrEMBL
  ENST00000442510 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529828 UniProtKB/TrEMBL
  ENST00000530727 UniProtKB/TrEMBL
  ENST00000570609 UniProtKB/TrEMBL
  ENST00000571847 UniProtKB/TrEMBL
  ENST00000573298 UniProtKB/TrEMBL
  ENST00000573477 UniProtKB/Swiss-Prot
  ENST00000573679 UniProtKB/Swiss-Prot
  ENST00000573971 UniProtKB/TrEMBL
  ENST00000574441 UniProtKB/TrEMBL
  ENST00000574718 UniProtKB/TrEMBL
  ENST00000575923 UniProtKB/TrEMBL
  ENST00000576833 UniProtKB/TrEMBL
  ENST00000643513 UniProtKB/TrEMBL
  ENST00000645247 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000081237 GTEx
  ENSG00000262418 GTEx
HGNC ID HGNC:9666 ENTREZGENE
Human Proteome Map PTPRC Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTP_recept_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPase_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ptprc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot
  Tyr_Pase_cat UniProtKB/Swiss-Prot
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot
KEGG Report hsa:5788 UniProtKB/Swiss-Prot
NCBI Gene 5788 ENTREZGENE
OMIM 151460 OMIM
  608971 OMIM
  609532 OMIM
Pfam CD45 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Y_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34011 PharmGKB, RGD
PIRSF Leukocyte_common_antigen UniProtKB/Swiss-Prot
PRINTS PRTYPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot
  TYR_PHOSPHATASE_PTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc_motif UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.654514 ENTREZGENE
UniProt A0A075B788_HUMAN UniProtKB/TrEMBL
  A0A0A0MT22 ENTREZGENE
  A0A0G2JNW2_HUMAN UniProtKB/TrEMBL
  A0A0G2JPD1_HUMAN UniProtKB/TrEMBL
  A0A140TA57_HUMAN UniProtKB/TrEMBL
  A0A140TA59_HUMAN UniProtKB/TrEMBL
  A0A140TA68_HUMAN UniProtKB/TrEMBL
  A0A140TA77_HUMAN UniProtKB/TrEMBL
  A0A140TA79_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5B1_HUMAN UniProtKB/TrEMBL
  A0A2R8YE81_HUMAN UniProtKB/TrEMBL
  E9PKH0_HUMAN UniProtKB/TrEMBL
  M3ZCP1_HUMAN UniProtKB/TrEMBL
  M9MMK8_HUMAN UniProtKB/TrEMBL
  M9MMK9_HUMAN UniProtKB/TrEMBL
  M9MML3_HUMAN UniProtKB/TrEMBL
  M9MML4 ENTREZGENE, UniProtKB/TrEMBL
  P08575 ENTREZGENE, UniProtKB/Swiss-Prot
  Q0VAE8_HUMAN UniProtKB/TrEMBL
  Q6LDN6_HUMAN UniProtKB/TrEMBL
  Q6PJK7_HUMAN UniProtKB/TrEMBL
  Q6Q1P2_HUMAN UniProtKB/TrEMBL
  Q6QIM3_HUMAN UniProtKB/TrEMBL
  Q6QIN1_HUMAN UniProtKB/TrEMBL
  Q6QIN9_HUMAN UniProtKB/TrEMBL
  Q6QIQ5_HUMAN UniProtKB/TrEMBL
  Q6QIR3_HUMAN UniProtKB/TrEMBL
  Q9H3X6_HUMAN UniProtKB/TrEMBL
  X6R433 ENTREZGENE
UniProt Secondary A0A0A0MT22 UniProtKB/Swiss-Prot
  A8K7W6 UniProtKB/Swiss-Prot
  Q16614 UniProtKB/Swiss-Prot
  Q9H0Y6 UniProtKB/Swiss-Prot
  X6R433 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 PTPRC  protein tyrosine phosphatase receptor type C    protein tyrosine phosphatase, receptor type C  Symbol and/or name change 5135510 APPROVED
2016-01-12 PTPRC  protein tyrosine phosphatase, receptor type C    protein tyrosine phosphatase, receptor type, C  Symbol and/or name change 5135510 APPROVED