PTPRD (protein tyrosine phosphatase receptor type D) - Rat Genome Database

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Gene: PTPRD (protein tyrosine phosphatase receptor type D) Homo sapiens
Analyze
Symbol: PTPRD
Name: protein tyrosine phosphatase receptor type D
RGD ID: 1348083
HGNC Page HGNC:9668
Description: Predicted to enable cell adhesion molecule binding activity; protein tyrosine phosphatase activity; and signaling receptor binding activity. Involved in presynapse assembly; synaptic membrane adhesion; and trans-synaptic signaling by trans-synaptic complex. Located in extracellular exosome. Is active in glutamatergic synapse. Implicated in coronary artery disease; diabetes mellitus; hypertension; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HPTP; HPTP-DELTA; HPTPD; HPTPDELTA; MGC119750; MGC119751; MGC119752; MGC119753; protein tyrosine phosphatase, receptor type, delta polypeptide; protein-tyrosine phosphatase delta; PTPD; R-PTP-DELTA; rceptor-type tyrosine-protein phosphatase delta; receptor-type tyrosine-protein phosphatase delta; RPTPDELTA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100129526  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3898,314,246 - 10,613,002 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl98,314,246 - 10,613,002 (-)EnsemblGRCh38hg38GRCh38
GRCh3798,314,246 - 10,613,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3698,304,246 - 10,602,509 (-)NCBINCBI36Build 36hg18NCBI36
Build 3498,307,267 - 9,008,737NCBI
Celera98,248,560 - 10,545,456 (-)NCBICelera
Cytogenetic Map9p24.1-p23NCBI
HuRef98,274,893 - 10,576,645 (-)NCBIHuRef
CHM1_198,314,050 - 10,612,534 (-)NCBICHM1_1
T2T-CHM13v2.098,320,802 - 10,622,316 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
casticin  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cumene  (ISO)
cyclosporin A  (ISO)
dexamethasone  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
geldanamycin  (EXP)
Heliotrine  (EXP)
irinotecan  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
manganese(II) chloride  (ISO)
methapyrilene  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pramipexole  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
senecionine  (EXP,ISO)
Senkirkine  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
streptozocin  (ISO)
temozolomide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Replication of genome-wide association signals of type 2 diabetes in Han Chinese in a prospective cohort. Chang YC, etal., Clin Endocrinol (Oxf). 2012 Mar;76(3):365-72. doi: 10.1111/j.1365-2265.2011.04175.x.
2. Genome-wide association analysis of common genetic variants of resistant hypertension. El Rouby N, etal., Pharmacogenomics J. 2019 Jun;19(3):295-304. doi: 10.1038/s41397-018-0049-x. Epub 2018 Sep 20.
3. Air pollution and diabetes association: Modification by type 2 diabetes genetic risk score. Eze IC, etal., Environ Int. 2016 Sep;94:263-271. doi: 10.1016/j.envint.2016.04.032. Epub 2016 Jun 6.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. PTPRD gene associated with blood pressure response to atenolol and resistant hypertension. Gong Y, etal., J Hypertens. 2015 Nov;33(11):2278-85. doi: 10.1097/HJH.0000000000000714.
6. Protein tyrosine phosphatase receptor type delta (PTPRD) gene in an animal model of restless legs syndrome. Morais MA, etal., J Sleep Res. 2023 Apr;32(2):e13716. doi: 10.1111/jsr.13716. Epub 2022 Sep 2.
7. Effectiveness of exercise and pramipexole in the treatment of restless leg syndrome: Implications on the dopaminergic system and PTPRD. Morais MA, etal., Sleep Med. 2023 Oct;110:201-211. doi: 10.1016/j.sleep.2023.08.012. Epub 2023 Aug 19.
8. Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study. Mälarstig A, etal., Blood. 2009 Aug 13;114(7):1417-22. doi: 10.1182/blood-2009-04-215269. Epub 2009 Jun 12.
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Large scale association analysis identifies three susceptibility loci for coronary artery disease. Saade S, etal., PLoS One. 2011;6(12):e29427. doi: 10.1371/journal.pone.0029427. Epub 2011 Dec 27.
12. Methylation-mediated silencing of PTPRD induces pulmonary hypertension by promoting pulmonary arterial smooth muscle cell migration via the PDGFRB/PLCγ1 axis. Xu J, etal., J Hypertens. 2022 Sep 1;40(9):1795-1807. doi: 10.1097/HJH.0000000000003220. Epub 2022 Jul 25.
Additional References at PubMed
PMID:2170109   PMID:7665159   PMID:7896816   PMID:8355697   PMID:8524829   PMID:8889548   PMID:9566880   PMID:9624153   PMID:12376545   PMID:12477932   PMID:12570871   PMID:14759258  
PMID:16114034   PMID:17420988   PMID:18050303   PMID:18414509   PMID:18519826   PMID:18660810   PMID:18951430   PMID:19240061   PMID:19478061   PMID:19500277   PMID:19913121   PMID:19921088  
PMID:20073072   PMID:20139422   PMID:20174558   PMID:20200953   PMID:20201926   PMID:20379614   PMID:20522523   PMID:20526338   PMID:20628086   PMID:20808825   PMID:20816195   PMID:21126580  
PMID:21213369   PMID:21264940   PMID:21493956   PMID:21647700   PMID:21779176   PMID:21873635   PMID:21926414   PMID:22052591   PMID:22305495   PMID:22357843   PMID:22571343   PMID:22832960  
PMID:22837378   PMID:23049088   PMID:23069849   PMID:23147557   PMID:23251661   PMID:23345436   PMID:23362303   PMID:23404381   PMID:23533145   PMID:23793025   PMID:23800680   PMID:23903073  
PMID:23962720   PMID:23991058   PMID:24047446   PMID:24189400   PMID:24324551   PMID:24556642   PMID:24811271   PMID:24821223   PMID:24843164   PMID:25113440   PMID:25138050   PMID:25142570  
PMID:25231870   PMID:25287652   PMID:25345593   PMID:25394468   PMID:25412184   PMID:25624497   PMID:25831062   PMID:26079428   PMID:26186194   PMID:26267899   PMID:26514267   PMID:26607758  
PMID:26656879   PMID:26760575   PMID:27335277   PMID:27501229   PMID:27738328   PMID:27880917   PMID:28159835   PMID:28322283   PMID:28345455   PMID:28497593   PMID:28514442   PMID:28675297  
PMID:29117863   PMID:29348429   PMID:29348579   PMID:29536759   PMID:29608257   PMID:31041642   PMID:31536960   PMID:31805999   PMID:32151175   PMID:32483983   PMID:32602014   PMID:32829106  
PMID:32838362   PMID:33961781   PMID:34299935   PMID:34615542   PMID:34863978   PMID:35603359   PMID:35914814   PMID:35982066   PMID:36906292   PMID:37499664  


Genomics

Comparative Map Data
PTPRD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3898,314,246 - 10,613,002 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl98,314,246 - 10,613,002 (-)EnsemblGRCh38hg38GRCh38
GRCh3798,314,246 - 10,613,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3698,304,246 - 10,602,509 (-)NCBINCBI36Build 36hg18NCBI36
Build 3498,307,267 - 9,008,737NCBI
Celera98,248,560 - 10,545,456 (-)NCBICelera
Cytogenetic Map9p24.1-p23NCBI
HuRef98,274,893 - 10,576,645 (-)NCBIHuRef
CHM1_198,314,050 - 10,612,534 (-)NCBICHM1_1
T2T-CHM13v2.098,320,802 - 10,622,316 (-)NCBIT2T-CHM13v2.0
Ptprd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39475,859,474 - 78,132,282 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl475,859,475 - 78,130,198 (-)EnsemblGRCm39 Ensembl
GRCm38475,941,237 - 78,211,742 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl475,941,238 - 78,211,961 (-)EnsemblGRCm38mm10GRCm38
MGSCv37475,587,143 - 76,240,203 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36475,416,037 - 76,065,530 (-)NCBIMGSCv36mm8
Celera474,401,961 - 75,072,056 (-)NCBICelera
Cytogenetic Map4C3NCBI
cM Map436.94NCBI
Ptprd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8595,093,221 - 97,415,498 (-)NCBIGRCr8
mRatBN7.2591,122,354 - 91,641,754 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2590,046,993 - 90,698,977 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl590,048,966 - 92,369,396 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0592,862,229 - 93,514,071 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl592,862,267 - 93,244,202 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0596,907,323 - 97,286,547 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4594,069,724 - 94,286,657 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera588,728,402 - 89,389,021 (-)NCBICelera
Cytogenetic Map5q31NCBI
Ptprd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543412,031,420 - 12,428,774 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543412,033,825 - 14,132,636 (-)NCBIChiLan1.0ChiLan1.0
PTPRD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211113,968,495 - 116,276,594 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19113,974,448 - 116,282,540 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v098,113,171 - 10,420,732 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.198,284,946 - 10,587,642 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl98,288,569 - 8,831,227 (-)Ensemblpanpan1.1panPan2
PTPRD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11129,100,913 - 31,278,495 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1129,104,448 - 29,501,600 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1127,899,386 - 28,554,986 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01129,983,665 - 32,164,492 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1129,983,093 - 30,381,977 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11128,699,584 - 30,884,051 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01128,519,644 - 30,692,371 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01129,185,571 - 31,348,978 (-)NCBIUU_Cfam_GSD_1.0
Ptprd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947144,112,128 - 146,247,876 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365392,564,793 - 2,945,293 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365392,564,815 - 3,369,975 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTPRD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1213,483,348 - 214,009,893 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11211,832,409 - 214,013,013 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PTPRD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11270,160,253 - 71,237,292 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1270,693,214 - 71,239,437 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603857,226,835 - 59,559,270 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptprd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473612,874,706 - 13,278,956 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473612,874,884 - 13,558,030 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTPRD
253 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1 copy number loss See cases [RCV000050580] Chr9:9661633..18034356 [GRCh38]
Chr9:9661633..18034354 [GRCh37]
Chr9:9651633..18024354 [NCBI36]
Chr9:9p23-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.1-23(chr9:8955956-10197409)x3 copy number gain See cases [RCV000052218] Chr9:8955956..10197409 [GRCh38]
Chr9:8955956..10197409 [GRCh37]
Chr9:8945956..10187409 [NCBI36]
Chr9:9p24.1-23		 uncertain significance
GRCh38/hg38 9p24.1-23(chr9:8970379-10200188)x3 copy number gain See cases [RCV000052219] Chr9:8970379..10200188 [GRCh38]
Chr9:8970379..10200188 [GRCh37]
Chr9:8960379..10190188 [NCBI36]
Chr9:9p24.1-23		 uncertain significance
GRCh38/hg38 9p23(chr9:10381123-11173149)x3 copy number gain See cases [RCV000052220] Chr9:10381123..11173149 [GRCh38]
Chr9:10381123..11173149 [GRCh37]
Chr9:10371123..11163149 [NCBI36]
Chr9:9p23		 uncertain significance
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001040712.2(PTPRD):c.2263C>T (p.Leu755=) single nucleotide variant Malignant melanoma [RCV000068720] Chr9:8465675 [GRCh38]
Chr9:8465675 [GRCh37]
Chr9:8455675 [NCBI36]
Chr9:9p24.1		 not provided
NM_002839.3(PTPRD):c.2259G>A (p.Arg753=) single nucleotide variant Malignant melanoma [RCV000068721] Chr9:8499710 [GRCh38]
Chr9:8499710 [GRCh37]
Chr9:8489710 [NCBI36]
Chr9:9p24.1		 not provided
NM_002839.3(PTPRD):c.-472+32918G>A single nucleotide variant Lung cancer [RCV000107927] Chr9:10000800 [GRCh38]
Chr9:10000800 [GRCh37]
Chr9:9p23		 uncertain significance
NM_002839.3(PTPRD):c.-236-6747C>A single nucleotide variant Lung cancer [RCV000108488] Chr9:9404229 [GRCh38]
Chr9:9404229 [GRCh37]
Chr9:9p23		 uncertain significance
NM_002839.3(PTPRD):c.-287+13803T>C single nucleotide variant Lung cancer [RCV000108495] Chr9:9720730 [GRCh38]
Chr9:9720730 [GRCh37]
Chr9:9p23		 uncertain significance
NM_002839.3(PTPRD):c.-326+14193G>A single nucleotide variant Lung cancer [RCV000108497] Chr9:9752617 [GRCh38]
Chr9:9752617 [GRCh37]
Chr9:9p23		 uncertain significance
NM_002839.3(PTPRD):c.-368+8288A>G single nucleotide variant Lung cancer [RCV000108506] Chr9:9930219 [GRCh38]
Chr9:9930219 [GRCh37]
Chr9:9p23		 uncertain significance
NM_002839.3(PTPRD):c.-471-33817T>A single nucleotide variant Lung cancer [RCV000108510] Chr9:9972427 [GRCh38]
Chr9:9972427 [GRCh37]
Chr9:9p23		 uncertain significance
NM_002839.4(PTPRD):c.5692C>T (p.Arg1898Cys) single nucleotide variant Malignant tumor of prostate [RCV000149336] Chr9:8317921 [GRCh38]
Chr9:8317921 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p23(chr9:10527668-13276053)x3 copy number gain See cases [RCV000133874] Chr9:10527668..13276053 [GRCh38]
Chr9:10527668..13276052 [GRCh37]
Chr9:10517668..13266052 [NCBI36]
Chr9:9p23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_002839.2:c.3056-11C>T single nucleotide variant Malignant melanoma of skin [RCV000149630] Chr9:9p24.1-23 not provided
NM_002839.2:c.2626G>T single nucleotide variant Malignant melanoma of skin [RCV000149633] Chr9:9p24.1-23 not provided
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.1-23(chr9:8903382-9014802)x1 copy number loss See cases [RCV000134365] Chr9:8903382..9014802 [GRCh38]
Chr9:8903382..9014802 [GRCh37]
Chr9:8893382..9004802 [NCBI36]
Chr9:9p24.1-23		 benign
GRCh38/hg38 9p23(chr9:10249116-10340720)x3 copy number gain See cases [RCV000134377] Chr9:10249116..10340720 [GRCh38]
Chr9:10249116..10340720 [GRCh37]
Chr9:10239116..10330720 [NCBI36]
Chr9:9p23		 benign
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.1-23(chr9:8961722-9486652)x1 copy number loss See cases [RCV000134926] Chr9:8961722..9486652 [GRCh38]
Chr9:8961722..9486652 [GRCh37]
Chr9:8951722..9476652 [NCBI36]
Chr9:9p24.1-23		 uncertain significance
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p23(chr9:10126221-12031786)x3 copy number gain See cases [RCV000136569] Chr9:10126221..12031786 [GRCh38]
Chr9:10126221..12031786 [GRCh37]
Chr9:10116221..12021786 [NCBI36]
Chr9:9p23		 uncertain significance
GRCh38/hg38 9p23(chr9:10425554-11318889)x3 copy number gain See cases [RCV000136538] Chr9:10425554..11318889 [GRCh38]
Chr9:10425554..11318889 [GRCh37]
Chr9:10415554..11308889 [NCBI36]
Chr9:9p23		 likely benign|uncertain significance
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 copy number loss See cases [RCV000136787] Chr9:4152060..8518353 [GRCh38]
Chr9:4152060..8518353 [GRCh37]
Chr9:4142060..8508353 [NCBI36]
Chr9:9p24.2-24.1		 pathogenic
GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 copy number gain See cases [RCV000136729] Chr9:3591159..9361786 [GRCh38]
Chr9:3591159..9361786 [GRCh37]
Chr9:3581159..9351786 [NCBI36]
Chr9:9p24.2-23		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p23(chr9:10006230-11086155)x1 copy number loss See cases [RCV000137281] Chr9:10006230..11086155 [GRCh38]
Chr9:10006230..11086155 [GRCh37]
Chr9:9996230..11076155 [NCBI36]
Chr9:9p23		 uncertain significance
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.1-23(chr9:7406754-10757763)x1 copy number loss See cases [RCV000137810] Chr9:7406754..10757763 [GRCh38]
Chr9:7406754..10757763 [GRCh37]
Chr9:7396754..10747763 [NCBI36]
Chr9:9p24.1-23		 uncertain significance
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p23(chr9:9114504-12196201)x3 copy number gain See cases [RCV000137759] Chr9:9114504..12196201 [GRCh38]
Chr9:9114504..12196201 [GRCh37]
Chr9:9104504..12186201 [NCBI36]
Chr9:9p23		 conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.1(chr9:8284068-8331541)x1 copy number loss See cases [RCV000140799] Chr9:8284068..8331541 [GRCh38]
Chr9:8284068..8331541 [GRCh37]
Chr9:8274068..8321541 [NCBI36]
Chr9:9p24.1		 benign
GRCh38/hg38 9p24.1(chr9:7493625-8937453)x3 copy number gain See cases [RCV000140602] Chr9:7493625..8937453 [GRCh38]
Chr9:7493625..8937453 [GRCh37]
Chr9:7483625..8927453 [NCBI36]
Chr9:9p24.1		 likely benign
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p23(chr9:9972107-12031786)x1 copy number loss See cases [RCV000142367] Chr9:9972107..12031786 [GRCh38]
Chr9:9972107..12031786 [GRCh37]
Chr9:9962107..12021786 [NCBI36]
Chr9:9p23		 uncertain significance
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTAGTTACAGTTCAAGAAG insertion not specified [RCV000156187] Chr9:8331574..8331575 [GRCh38]
Chr9:8331574..8331575 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.3(PTPRD):c.182G>A (p.Gly61Glu) single nucleotide variant Malignant melanoma of skin [RCV000149625] Chr9:8636727 [GRCh38]
Chr9:8636727 [GRCh37]		 not provided
NM_002839.4(PTPRD):c.211-10C>T single nucleotide variant not provided [RCV000928523] Chr9:8633468 [GRCh38]
Chr9:8633468 [GRCh37]
Chr9:9p24.1		 likely benign|not provided
NM_002839.3(PTPRD):c.3124G>A (p.Glu1042Lys) single nucleotide variant Malignant melanoma of skin [RCV000149627] Chr9:8485256 [GRCh38]
Chr9:8485256 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.1337G>A (p.Gly446Glu) single nucleotide variant Malignant melanoma of skin [RCV000149628] Chr9:8518054 [GRCh38]
Chr9:8518054 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.3122C>T (p.Pro1041Leu) single nucleotide variant Malignant melanoma of skin [RCV000149629] Chr9:8485258 [GRCh38]
Chr9:8485258 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.3115G>A (p.Glu1039Lys) single nucleotide variant Malignant melanoma of skin [RCV000149631] Chr9:8485265 [GRCh38]
Chr9:8485265 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.2508G>A (p.Met836Ile) single nucleotide variant Malignant melanoma of skin [RCV000149632] Chr9:8486309 [GRCh38]
Chr9:8486309 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.3007G>A (p.Gly1003Arg) single nucleotide variant Malignant melanoma of skin [RCV000149634] Chr9:8485810 [GRCh38]
Chr9:8485810 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.3742G>A (p.Asp1248Asn) single nucleotide variant Malignant melanoma of skin [RCV000149635] Chr9:8460544 [GRCh38]
Chr9:8460544 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.5119G>A (p.Gly1707Arg) single nucleotide variant Malignant melanoma of skin [RCV000149636] Chr9:8341097 [GRCh38]
Chr9:8341097 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.4429C>T (p.His1477Tyr) single nucleotide variant Malignant melanoma of skin [RCV000149637] Chr9:8376684 [GRCh38]
Chr9:8376684 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.4693G>A (p.Val1565Ile) single nucleotide variant Malignant melanoma of skin [RCV000149638] Chr9:8341947 [GRCh38]
Chr9:8341947 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.5068C>T (p.Pro1690Ser) single nucleotide variant Malignant melanoma of skin [RCV000149639] Chr9:8341148 [GRCh38]
Chr9:8341148 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.5069C>T (p.Pro1690Leu) single nucleotide variant Malignant melanoma of skin [RCV000149640] Chr9:8341147 [GRCh38]
Chr9:8341147 [GRCh37]		 not provided
NM_002839.3(PTPRD):c.4661+6_4661+7insACAGTTCAGGAATGGTAAGTT insertion Malignant melanoma of skin [RCV000149641] Chr9:8375929..8375930 [GRCh38]
Chr9:8375929..8375930 [GRCh37]		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
NM_002839.3(PTPRD):c.352+22804_352+51088dup duplication Large for gestational age [RCV000161561] Chr9:8582229..8610513 [GRCh38]
Chr9:8582229..8610513 [GRCh37]
Chr9:9p24.1		 not provided
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTAGTTACAGTTCAAGAAT insertion not specified [RCV000217683] Chr9:8331574..8331575 [GRCh38]
Chr9:8331574..8331575 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.1-23(chr9:6825346-10816593)x1 copy number loss See cases [RCV002292703] Chr9:6825346..10816593 [GRCh37]
Chr9:9p24.1-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p23(chr9:9782827-9872073)x1 copy number loss See cases [RCV000446473] Chr9:9782827..9872073 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p23(chr9:9400269-9486593)x1 copy number loss See cases [RCV000446520] Chr9:9400269..9486593 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1(chr9:8802640-8836439) copy number loss Abnormal esophagus morphology [RCV000416644] Chr9:8802640..8836439 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p23(chr9:9919638-9990269) copy number loss Abnormal esophagus morphology [RCV000416744] Chr9:9919638..9990269 [GRCh37]
Chr9:9p23		 likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3		 pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2		 drug response
NM_002839.4(PTPRD):c.1409A>G (p.Asn470Ser) single nucleotide variant Inborn genetic diseases [RCV003276808] Chr9:8517982 [GRCh38]
Chr9:8517982 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2305A>T (p.Met769Leu) single nucleotide variant Inborn genetic diseases [RCV003280337] Chr9:8499664 [GRCh38]
Chr9:8499664 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p23(chr9:9975101-10487877)x3 copy number gain not provided [RCV000683126] Chr9:9975101..10487877 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p23(chr9:9938034-13049945)x3 copy number gain not provided [RCV000683158] Chr9:9938034..13049945 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p23(chr9:9331656-10051766)x3 copy number gain not provided [RCV000683143] Chr9:9331656..10051766 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.1(chr9:8247628-8484240)x1 copy number loss not provided [RCV000748187] Chr9:8247628..8484240 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:8635810-8641684)x1 copy number loss not provided [RCV000748188] Chr9:8635810..8641684 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:8635810-8641791)x0 copy number loss not provided [RCV000748189] Chr9:8635810..8641791 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:8640921-8641739)x1 copy number loss not provided [RCV000748190] Chr9:8640921..8641739 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1-23(chr9:8903857-9032105)x1 copy number loss not provided [RCV000748191] Chr9:8903857..9032105 [GRCh37]
Chr9:9p24.1-23		 benign
GRCh37/hg19 9p23(chr9:9340617-9340891)x0 copy number loss not provided [RCV000748192] Chr9:9340617..9340891 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:9340617-9342118)x0 copy number loss not provided [RCV000748193] Chr9:9340617..9342118 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:9340701-9340891)x1 copy number loss not provided [RCV000748194] Chr9:9340701..9340891 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:9562254-9687487)x1 copy number loss not provided [RCV000748195] Chr9:9562254..9687487 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:9667071-9979990)x1 copy number loss not provided [RCV000748196] Chr9:9667071..9979990 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:9711904-9733974)x1 copy number loss not provided [RCV000748197] Chr9:9711904..9733974 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:9816063-9954379)x1 copy number loss not provided [RCV000748198] Chr9:9816063..9954379 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:9904274-9979990)x1 copy number loss not provided [RCV000748199] Chr9:9904274..9979990 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:9977113-10023441)x3 copy number gain not provided [RCV000748200] Chr9:9977113..10023441 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:9979990-10023441)x3 copy number gain not provided [RCV000748201] Chr9:9979990..10023441 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:10020602-10022362)x3 copy number gain not provided [RCV000748202] Chr9:10020602..10022362 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:10020602-10023441)x3 copy number gain not provided [RCV000748203] Chr9:10020602..10023441 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:10254449-10318512)x3 copy number gain not provided [RCV000748204] Chr9:10254449..10318512 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:10276100-11716862)x1 copy number loss not provided [RCV000748205] Chr9:10276100..11716862 [GRCh37]
Chr9:9p23		 likely benign
GRCh37/hg19 9p23(chr9:10389285-10405025)x3 copy number gain not provided [RCV000748206] Chr9:10389285..10405025 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:10391604-10405025)x3 copy number gain not provided [RCV000748207] Chr9:10391604..10405025 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:10394286-10405076)x0 copy number loss not provided [RCV000748208] Chr9:10394286..10405076 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p23(chr9:10404594-10415138)x3 copy number gain not provided [RCV000748209] Chr9:10404594..10415138 [GRCh37]
Chr9:9p23		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
NM_002839.4(PTPRD):c.1339C>G (p.Gln447Glu) single nucleotide variant PTPRD-related condition [RCV003968416]|not provided [RCV001640920] Chr9:8518052 [GRCh38]
Chr9:8518052 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.1697C>T (p.Pro566Leu) single nucleotide variant Inborn genetic diseases [RCV003267804] Chr9:8504386 [GRCh38]
Chr9:8504386 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2889C>T (p.Ile963=) single nucleotide variant PTPRD-related condition [RCV003925905]|not provided [RCV000949326] Chr9:8485928 [GRCh38]
Chr9:8485928 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.11T>G (p.Val4Gly) single nucleotide variant not provided [RCV000967115] Chr9:8733833 [GRCh38]
Chr9:8733833 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.1614T>C (p.Pro538=) single nucleotide variant PTPRD-related condition [RCV003940430]|not provided [RCV000881240] Chr9:8507364 [GRCh38]
Chr9:8507364 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_002839.4(PTPRD):c.4290A>T (p.Gly1430=) single nucleotide variant PTPRD-related condition [RCV003920854]|not provided [RCV000897409] Chr9:8389328 [GRCh38]
Chr9:8389328 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.2598G>A (p.Glu866=) single nucleotide variant not provided [RCV000921907] Chr9:8486219 [GRCh38]
Chr9:8486219 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.4211-8T>C single nucleotide variant not provided [RCV000925951] Chr9:8389415 [GRCh38]
Chr9:8389415 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.4275T>C (p.Tyr1425=) single nucleotide variant PTPRD-related condition [RCV003972851]|not provided [RCV000966209] Chr9:8389343 [GRCh38]
Chr9:8389343 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.3030G>C (p.Gln1010His) single nucleotide variant not provided [RCV000949325] Chr9:8485787 [GRCh38]
Chr9:8485787 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p23(chr9:10546813-10690633)x1 copy number loss not provided [RCV001006208] Chr9:10546813..10690633 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_002839.4(PTPRD):c.962-9C>G single nucleotide variant PTPRD-related condition [RCV003902854]|not provided [RCV000909165] Chr9:8518438 [GRCh38]
Chr9:8518438 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.2685C>G (p.Leu895=) single nucleotide variant PTPRD-related condition [RCV003905964]|not provided [RCV000968941] Chr9:8486132 [GRCh38]
Chr9:8486132 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_002839.4(PTPRD):c.4140C>T (p.Asn1380=) single nucleotide variant PTPRD-related condition [RCV003935986]|not provided [RCV000964505] Chr9:8404607 [GRCh38]
Chr9:8404607 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_002839.4(PTPRD):c.551-4C>G single nucleotide variant PTPRD-related condition [RCV003920849]|not provided [RCV000896842] Chr9:8526648 [GRCh38]
Chr9:8526648 [GRCh37]
Chr9:9p24.1		 benign|likely benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_002839.4(PTPRD):c.3453C>T (p.Arg1151=) single nucleotide variant PTPRD-related condition [RCV003928458]|not provided [RCV000969231] Chr9:8471046 [GRCh38]
Chr9:8471046 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.5031T>C (p.Asn1677=) single nucleotide variant PTPRD-related condition [RCV003916129]|not provided [RCV000963656] Chr9:8341185 [GRCh38]
Chr9:8341185 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1 copy number loss See cases [RCV002285070] Chr9:203861..10283912 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_002839.4(PTPRD):c.2162A>T (p.Glu721Val) single nucleotide variant Inborn genetic diseases [RCV003243506] Chr9:8499807 [GRCh38]
Chr9:8499807 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_002839.4(PTPRD):c.725C>T (p.Pro242Leu) single nucleotide variant Inborn genetic diseases [RCV003248739] Chr9:8521513 [GRCh38]
Chr9:8521513 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1(chr9:8676175-8892976)x1 copy number loss not provided [RCV000846734] Chr9:8676175..8892976 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1(chr9:8684982-8788779)x1 copy number loss not provided [RCV000847337] Chr9:8684982..8788779 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1-23(chr9:8901757-9027218)x1 copy number loss not provided [RCV000849005] Chr9:8901757..9027218 [GRCh37]
Chr9:9p24.1-23		 uncertain significance
GRCh37/hg19 9p23(chr9:9973934-10487248)x3 copy number gain not provided [RCV000846371] Chr9:9973934..10487248 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p23(chr9:9358619-9414834)x3 copy number gain not provided [RCV000846972] Chr9:9358619..9414834 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.1-23(chr9:8944319-10214539)x3 copy number gain not provided [RCV000849852] Chr9:8944319..10214539 [GRCh37]
Chr9:9p24.1-23		 uncertain significance
GRCh37/hg19 9p23(chr9:9995481-10038041)x1 copy number loss not provided [RCV000846863] Chr9:9995481..10038041 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.1(chr9:8400319-8929171)x1 copy number loss not provided [RCV001006204] Chr9:8400319..8929171 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p23(chr9:10502636-10716842)x1 copy number loss not provided [RCV001006207] Chr9:10502636..10716842 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p23(chr9:9562066-10272448)x3 copy number gain not provided [RCV000847849] Chr9:9562066..10272448 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.1(chr9:8509505-8619969)x1 copy number loss not provided [RCV000846089] Chr9:8509505..8619969 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p23(chr9:9560356-9691315)x1 copy number loss not provided [RCV000846129] Chr9:9560356..9691315 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.1(chr9:8149598-8338878)x1 copy number loss not provided [RCV000846350] Chr9:8149598..8338878 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.978A>G (p.Pro326=) single nucleotide variant not provided [RCV000897006] Chr9:8518413 [GRCh38]
Chr9:8518413 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p23(chr9:10342651-11549994)x3 copy number gain not provided [RCV001006206] Chr9:10342651..11549994 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p23(chr9:10309896-10893170)x3 copy number gain not provided [RCV000848768] Chr9:10309896..10893170 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p23(chr9:9149127-9231961)x1 copy number loss not provided [RCV000846398] Chr9:9149127..9231961 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1-23(chr9:8902032-9041689)x1 copy number loss not provided [RCV000849667] Chr9:8902032..9041689 [GRCh37]
Chr9:9p24.1-23		 uncertain significance
GRCh37/hg19 9p23(chr9:9937752-9957178)x1 copy number loss not provided [RCV000847291] Chr9:9937752..9957178 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.1-23(chr9:8901757-9041689)x3 copy number gain not provided [RCV000847314] Chr9:8901757..9041689 [GRCh37]
Chr9:9p24.1-23		 uncertain significance
GRCh37/hg19 9p23(chr9:9560356-9691240)x1 copy number loss not provided [RCV000847800] Chr9:9560356..9691240 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.1(chr9:7245727-8741188)x3 copy number gain not provided [RCV000848191] Chr9:7245727..8741188 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1(chr9:8583472-8883408)x1 copy number loss not provided [RCV000848751] Chr9:8583472..8883408 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p23(chr9:9387869-9505596)x1 copy number loss not provided [RCV000845757] Chr9:9387869..9505596 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_002839.4(PTPRD):c.34C>T (p.Leu12Phe) single nucleotide variant Inborn genetic diseases [RCV003241409] Chr9:8733810 [GRCh38]
Chr9:8733810 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2606C>A (p.Thr869Asn) single nucleotide variant Inborn genetic diseases [RCV003290626] Chr9:8486211 [GRCh38]
Chr9:8486211 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.5472C>T (p.Ile1824=) single nucleotide variant PTPRD-related condition [RCV003968377]|not provided [RCV000909726] Chr9:8331644 [GRCh38]
Chr9:8331644 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_002839.4(PTPRD):c.2643A>C (p.Thr881=) single nucleotide variant PTPRD-related condition [RCV003950698]|not provided [RCV000909086] Chr9:8486174 [GRCh38]
Chr9:8486174 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_002839.4(PTPRD):c.1543+10G>A single nucleotide variant PTPRD-related condition [RCV003960717]|not provided [RCV000961901] Chr9:8517838 [GRCh38]
Chr9:8517838 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_002839.4(PTPRD):c.3342C>T (p.Phe1114=) single nucleotide variant PTPRD-related condition [RCV003916138]|not provided [RCV000963922] Chr9:8484190 [GRCh38]
Chr9:8484190 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.2199C>T (p.Arg733=) single nucleotide variant PTPRD-related condition [RCV003912874]|not provided [RCV000901635] Chr9:8499770 [GRCh38]
Chr9:8499770 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.360A>G (p.Gln120=) single nucleotide variant not provided [RCV000934098] Chr9:8528772 [GRCh38]
Chr9:8528772 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.90C>T (p.Pro30=) single nucleotide variant not provided [RCV000933928] Chr9:8636819 [GRCh38]
Chr9:8636819 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.2821C>G (p.Pro941Ala) single nucleotide variant PTPRD-related condition [RCV003920738]|not provided [RCV000889634] Chr9:8485996 [GRCh38]
Chr9:8485996 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.2675T>C (p.Val892Ala) single nucleotide variant PTPRD-related condition [RCV003930780]|not provided [RCV000890540] Chr9:8486142 [GRCh38]
Chr9:8486142 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_002839.4(PTPRD):c.1722A>G (p.Gly574=) single nucleotide variant PTPRD-related condition [RCV003918634]|not provided [RCV000999136] Chr9:8504361 [GRCh38]
Chr9:8504361 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.654C>T (p.Ser218=) single nucleotide variant not provided [RCV000912565] Chr9:8524950 [GRCh38]
Chr9:8524950 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.5534+34G>A single nucleotide variant not provided [RCV001649332] Chr9:8331548 [GRCh38]
Chr9:8331548 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:8027303-8505087)x3 copy number gain not provided [RCV001006203] Chr9:8027303..8505087 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p23(chr9:9779357-11751669)x3 copy number gain not provided [RCV001006205] Chr9:9779357..11751669 [GRCh37]
Chr9:9p23		 uncertain significance
NM_002839.4(PTPRD):c.4254G>C (p.Gly1418=) single nucleotide variant not provided [RCV001608458] Chr9:8389364 [GRCh38]
Chr9:8389364 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p23(chr9:9328063-9534285)x3 copy number gain not provided [RCV001260074] Chr9:9328063..9534285 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p23(chr9:9317522-9401665)x1 copy number loss not provided [RCV001260075] Chr9:9317522..9401665 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.1-23(chr9:8784854-10320042)x3 copy number gain not provided [RCV001260084] Chr9:8784854..10320042 [GRCh37]
Chr9:9p24.1-23		 uncertain significance
GRCh37/hg19 9p23(chr9:10292536-10491387)x1 copy number loss not provided [RCV001260071] Chr9:10292536..10491387 [GRCh37]
Chr9:9p23		 likely benign
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_002839.4(PTPRD):c.4078G>A (p.Glu1360Lys) single nucleotide variant Intellectual disability [RCV001281520] Chr9:8436600 [GRCh38]
Chr9:8436600 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p23(chr9:9724975-10032408)x1 copy number loss not provided [RCV001834329] Chr9:9724975..10032408 [GRCh37]
Chr9:9p23		 uncertain significance
NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTACAGTTCAAGAAT insertion not provided [RCV001769834] Chr9:8331574..8331575 [GRCh38]
Chr9:8331574..8331575 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.1-22.1(chr9:6788084-19213960) copy number loss not specified [RCV002053841] Chr9:6788084..19213960 [GRCh37]
Chr9:9p24.1-22.1		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) copy number loss not specified [RCV002053810] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) copy number loss not specified [RCV002053812] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) copy number loss not specified [RCV002053814] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p23(chr9:10586838-12406559)x1 copy number loss not provided [RCV001836513] Chr9:10586838..12406559 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p23(chr9:9843264-9962066)x1 copy number loss not provided [RCV001834241] Chr9:9843264..9962066 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.1(chr9:8159983-8433022)x1 copy number loss not provided [RCV001827883] Chr9:8159983..8433022 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_002839.4(PTPRD):c.5102A>G (p.Asn1701Ser) single nucleotide variant not specified [RCV002223163] Chr9:8341114 [GRCh38]
Chr9:8341114 [GRCh37]
Chr9:9p24.1		 uncertain significance
Single allele deletion Chromosome 9p deletion syndrome [RCV002247737] Chr9:203987..11602476 [GRCh38]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101) copy number loss Chromosome 9p deletion syndrome [RCV002280769] Chr9:4992582..19322101 [GRCh37]
Chr9:9p24.1-22.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12127088) copy number loss Chromosome 9p deletion syndrome [RCV002280766] Chr9:203861..12127088 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12570076) copy number loss Chromosome 9p deletion syndrome [RCV002280768] Chr9:203861..12570076 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_002839.4(PTPRD):c.2773C>A (p.Leu925Ile) single nucleotide variant Inborn genetic diseases [RCV003286134] Chr9:8486044 [GRCh38]
Chr9:8486044 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p23(chr9:9294608-9683321)x1 copy number loss not provided [RCV002473697] Chr9:9294608..9683321 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p23(chr9:9779358-9982967)x1 copy number loss not provided [RCV002474977] Chr9:9779358..9982967 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.1-23(chr9:8878557-9270642)x3 copy number gain not provided [RCV002474958] Chr9:8878557..9270642 [GRCh37]
Chr9:9p24.1-23		 uncertain significance
GRCh37/hg19 9p24.1(chr9:8348602-8425017)x1 copy number loss not provided [RCV002473635] Chr9:8348602..8425017 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.5534+7_5534+8insGTAAGTTACAGTTCAAGAATGGTAA insertion not provided [RCV003231745] Chr9:8331574..8331575 [GRCh38]
Chr9:8331574..8331575 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.2505G>C (p.Gln835His) single nucleotide variant Inborn genetic diseases [RCV002754822] Chr9:8486312 [GRCh38]
Chr9:8486312 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.4052C>G (p.Ala1351Gly) single nucleotide variant Inborn genetic diseases [RCV002817666] Chr9:8436626 [GRCh38]
Chr9:8436626 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.1699G>A (p.Gly567Arg) single nucleotide variant Inborn genetic diseases [RCV002684934] Chr9:8504384 [GRCh38]
Chr9:8504384 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.4432G>A (p.Gly1478Arg) single nucleotide variant Inborn genetic diseases [RCV002732270] Chr9:8376681 [GRCh38]
Chr9:8376681 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.3170G>C (p.Gly1057Ala) single nucleotide variant Inborn genetic diseases [RCV002818526] Chr9:8484362 [GRCh38]
Chr9:8484362 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.4427C>A (p.Thr1476Asn) single nucleotide variant Inborn genetic diseases [RCV002946594] Chr9:8376686 [GRCh38]
Chr9:8376686 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.3524G>T (p.Arg1175Met) single nucleotide variant Inborn genetic diseases [RCV002865353] Chr9:8465656 [GRCh38]
Chr9:8465656 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.5537C>T (p.Ala1846Val) single nucleotide variant Inborn genetic diseases [RCV002661403] Chr9:8319964 [GRCh38]
Chr9:8319964 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2483G>C (p.Arg828Pro) single nucleotide variant Inborn genetic diseases [RCV002707956] Chr9:8486334 [GRCh38]
Chr9:8486334 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.3797G>C (p.Gly1266Ala) single nucleotide variant Inborn genetic diseases [RCV002910303] Chr9:8460489 [GRCh38]
Chr9:8460489 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2803G>A (p.Val935Ile) single nucleotide variant Inborn genetic diseases [RCV002981032] Chr9:8486014 [GRCh38]
Chr9:8486014 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.5240G>T (p.Arg1747Leu) single nucleotide variant Inborn genetic diseases [RCV002782703] Chr9:8340356 [GRCh38]
Chr9:8340356 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.4504A>C (p.Lys1502Gln) single nucleotide variant Inborn genetic diseases [RCV002660770] Chr9:8376609 [GRCh38]
Chr9:8376609 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.3181G>A (p.Glu1061Lys) single nucleotide variant Inborn genetic diseases [RCV002759864] Chr9:8484351 [GRCh38]
Chr9:8484351 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2809T>A (p.Leu937Ile) single nucleotide variant Inborn genetic diseases [RCV002925067] Chr9:8486008 [GRCh38]
Chr9:8486008 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.3746C>G (p.Pro1249Arg) single nucleotide variant Inborn genetic diseases [RCV002821303] Chr9:8460540 [GRCh38]
Chr9:8460540 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2930C>T (p.Thr977Ile) single nucleotide variant Inborn genetic diseases [RCV002998273] Chr9:8485887 [GRCh38]
Chr9:8485887 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.3986C>T (p.Pro1329Leu) single nucleotide variant Inborn genetic diseases [RCV002703849] Chr9:8449727 [GRCh38]
Chr9:8449727 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.3914C>A (p.Pro1305Gln) single nucleotide variant Inborn genetic diseases [RCV002887528] Chr9:8449799 [GRCh38]
Chr9:8449799 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2398G>A (p.Val800Ile) single nucleotide variant Inborn genetic diseases [RCV002977986] Chr9:8492931 [GRCh38]
Chr9:8492931 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2051G>A (p.Arg684Gln) single nucleotide variant Inborn genetic diseases [RCV002701865] Chr9:8500831 [GRCh38]
Chr9:8500831 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2752C>G (p.Pro918Ala) single nucleotide variant Inborn genetic diseases [RCV002919457] Chr9:8486065 [GRCh38]
Chr9:8486065 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.1971C>G (p.Asp657Glu) single nucleotide variant Inborn genetic diseases [RCV002742954] Chr9:8500911 [GRCh38]
Chr9:8500911 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2000C>T (p.Ser667Leu) single nucleotide variant Inborn genetic diseases [RCV002891448] Chr9:8500882 [GRCh38]
Chr9:8500882 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2960A>T (p.Asp987Val) single nucleotide variant Inborn genetic diseases [RCV002804446] Chr9:8485857 [GRCh38]
Chr9:8485857 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.323G>A (p.Ser108Asn) single nucleotide variant Inborn genetic diseases [RCV002813286] Chr9:8633346 [GRCh38]
Chr9:8633346 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.940A>G (p.Ile314Val) single nucleotide variant Inborn genetic diseases [RCV002898347] Chr9:8521298 [GRCh38]
Chr9:8521298 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.3329C>T (p.Thr1110Ile) single nucleotide variant Inborn genetic diseases [RCV002812835] Chr9:8484203 [GRCh38]
Chr9:8484203 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.4996C>G (p.Leu1666Val) single nucleotide variant Inborn genetic diseases [RCV002809097] Chr9:8341220 [GRCh38]
Chr9:8341220 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2150A>T (p.Lys717Ile) single nucleotide variant Inborn genetic diseases [RCV002921417] Chr9:8499819 [GRCh38]
Chr9:8499819 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.1655A>C (p.Lys552Thr) single nucleotide variant Inborn genetic diseases [RCV002809803] Chr9:8507323 [GRCh38]
Chr9:8507323 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.3029A>G (p.Gln1010Arg) single nucleotide variant Inborn genetic diseases [RCV002655937] Chr9:8485788 [GRCh38]
Chr9:8485788 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.1439G>A (p.Gly480Asp) single nucleotide variant Inborn genetic diseases [RCV003215242] Chr9:8517952 [GRCh38]
Chr9:8517952 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.4949G>A (p.Arg1650His) single nucleotide variant Inborn genetic diseases [RCV003202418] Chr9:8341267 [GRCh38]
Chr9:8341267 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.1751G>A (p.Arg584His) single nucleotide variant Inborn genetic diseases [RCV003212909] Chr9:8504332 [GRCh38]
Chr9:8504332 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.56A>T (p.Asp19Val) single nucleotide variant Inborn genetic diseases [RCV003172751] Chr9:8733788 [GRCh38]
Chr9:8733788 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2429C>G (p.Ala810Gly) single nucleotide variant Inborn genetic diseases [RCV003180048] Chr9:8492900 [GRCh38]
Chr9:8492900 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2047T>A (p.Tyr683Asn) single nucleotide variant Inborn genetic diseases [RCV003206105] Chr9:8500835 [GRCh38]
Chr9:8500835 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2972A>T (p.Asp991Val) single nucleotide variant Inborn genetic diseases [RCV003178545] Chr9:8485845 [GRCh38]
Chr9:8485845 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2533C>T (p.Pro845Ser) single nucleotide variant Inborn genetic diseases [RCV003183093] Chr9:8486284 [GRCh38]
Chr9:8486284 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.4195C>G (p.Leu1399Val) single nucleotide variant Inborn genetic diseases [RCV003284729] Chr9:8404552 [GRCh38]
Chr9:8404552 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.5456G>T (p.Gly1819Val) single nucleotide variant Inborn genetic diseases [RCV003195933] Chr9:8331660 [GRCh38]
Chr9:8331660 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.5032A>G (p.Ile1678Val) single nucleotide variant Inborn genetic diseases [RCV003201613] Chr9:8341184 [GRCh38]
Chr9:8341184 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2704G>T (p.Gly902Cys) single nucleotide variant Inborn genetic diseases [RCV003197679] Chr9:8486113 [GRCh38]
Chr9:8486113 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.23T>C (p.Leu8Pro) single nucleotide variant Inborn genetic diseases [RCV003309734] Chr9:8733821 [GRCh38]
Chr9:8733821 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.742A>C (p.Met248Leu) single nucleotide variant Inborn genetic diseases [RCV003309853] Chr9:8521496 [GRCh38]
Chr9:8521496 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.978A>C (p.Pro326=) single nucleotide variant not provided [RCV003425610] Chr9:8518413 [GRCh38]
Chr9:8518413 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.5611G>C (p.Asp1871His) single nucleotide variant Inborn genetic diseases [RCV003379493] Chr9:8319890 [GRCh38]
Chr9:8319890 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.3302C>T (p.Ala1101Val) single nucleotide variant Inborn genetic diseases [RCV003373427] Chr9:8484230 [GRCh38]
Chr9:8484230 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.5668G>C (p.Glu1890Gln) single nucleotide variant Inborn genetic diseases [RCV003370155] Chr9:8319833 [GRCh38]
Chr9:8319833 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2873A>C (p.Tyr958Ser) single nucleotide variant Inborn genetic diseases [RCV003374419] Chr9:8485944 [GRCh38]
Chr9:8485944 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2941C>G (p.Leu981Val) single nucleotide variant PTPRD-related condition [RCV003419036] Chr9:8485876 [GRCh38]
Chr9:8485876 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1 copy number loss not provided [RCV003483054] Chr9:8595338..15622555 [GRCh37]
Chr9:9p24.1-22.3		 pathogenic
GRCh37/hg19 9p23(chr9:9387870-9511235)x1 copy number loss not provided [RCV003483055] Chr9:9387870..9511235 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p23(chr9:9807256-9948303)x1 copy number loss not provided [RCV003483056] Chr9:9807256..9948303 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_002839.4(PTPRD):c.1980C>T (p.His660=) single nucleotide variant PTPRD-related condition [RCV003919226]|not provided [RCV003425608] Chr9:8500902 [GRCh38]
Chr9:8500902 [GRCh37]
Chr9:9p24.1		 likely benign
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_002839.4(PTPRD):c.2468-6C>T single nucleotide variant PTPRD-related condition [RCV003919225]|not provided [RCV003425607] Chr9:8486355 [GRCh38]
Chr9:8486355 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.1293G>T (p.Ser431=) single nucleotide variant PTPRD-related condition [RCV003946615]|not provided [RCV003425609] Chr9:8518098 [GRCh38]
Chr9:8518098 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.2352C>T (p.Asp784=) single nucleotide variant PTPRD-related condition [RCV003939034]|not provided [RCV003435709] Chr9:8492977 [GRCh38]
Chr9:8492977 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1 copy number loss not specified [RCV003986852] Chr9:203862..8548307 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 copy number loss not specified [RCV003986799] Chr9:203861..19302836 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 copy number loss not specified [RCV003986809] Chr9:203861..15508556 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p23(chr9:9173872-9233853)x3 copy number gain not specified [RCV003986832] Chr9:9173872..9233853 [GRCh37]
Chr9:9p23		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1 copy number loss not specified [RCV003986818] Chr9:203861..9128400 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_002839.4(PTPRD):c.1122G>A (p.Ala374=) single nucleotide variant PTPRD-related condition [RCV003942111] Chr9:8518269 [GRCh38]
Chr9:8518269 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.996C>T (p.Thr332=) single nucleotide variant PTPRD-related condition [RCV003982511] Chr9:8518395 [GRCh38]
Chr9:8518395 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.3234G>T (p.Glu1078Asp) single nucleotide variant PTPRD-related condition [RCV003971362] Chr9:8484298 [GRCh38]
Chr9:8484298 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.750C>T (p.Gly250=) single nucleotide variant PTPRD-related condition [RCV003962050] Chr9:8521488 [GRCh38]
Chr9:8521488 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.5076T>G (p.Arg1692=) single nucleotide variant not provided [RCV003886689] Chr9:8341140 [GRCh38]
Chr9:8341140 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.91G>A (p.Val31Ile) single nucleotide variant PTPRD-related condition [RCV003921499] Chr9:8636818 [GRCh38]
Chr9:8636818 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.2164G>T (p.Ala722Ser) single nucleotide variant PTPRD-related condition [RCV003936815] Chr9:8499805 [GRCh38]
Chr9:8499805 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.3154-8C>G single nucleotide variant PTPRD-related condition [RCV003951603] Chr9:8484386 [GRCh38]
Chr9:8484386 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.1335T>C (p.Asn445=) single nucleotide variant PTPRD-related condition [RCV003961446] Chr9:8518056 [GRCh38]
Chr9:8518056 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.2886C>T (p.Asn962=) single nucleotide variant PTPRD-related condition [RCV003944674] Chr9:8485931 [GRCh38]
Chr9:8485931 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.3582T>C (p.Ala1194=) single nucleotide variant PTPRD-related condition [RCV003984792] Chr9:8465598 [GRCh38]
Chr9:8465598 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.2756C>A (p.Thr919Asn) single nucleotide variant PTPRD-related condition [RCV003931453] Chr9:8486061 [GRCh38]
Chr9:8486061 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.2600C>T (p.Pro867Leu) single nucleotide variant PTPRD-related condition [RCV003931573] Chr9:8486217 [GRCh38]
Chr9:8486217 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.4161G>A (p.Ala1387=) single nucleotide variant PTPRD-related condition [RCV003933954] Chr9:8404586 [GRCh38]
Chr9:8404586 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.3292A>C (p.Arg1098=) single nucleotide variant PTPRD-related condition [RCV003919524] Chr9:8484240 [GRCh38]
Chr9:8484240 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.3420C>T (p.Tyr1140=) single nucleotide variant PTPRD-related condition [RCV003977110] Chr9:8471079 [GRCh38]
Chr9:8471079 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.2001G>A (p.Ser667=) single nucleotide variant PTPRD-related condition [RCV003981772] Chr9:8500881 [GRCh38]
Chr9:8500881 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.3747C>T (p.Pro1249=) single nucleotide variant PTPRD-related condition [RCV003941882] Chr9:8460539 [GRCh38]
Chr9:8460539 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.1248A>G (p.Ala416=) single nucleotide variant PTPRD-related condition [RCV003982105] Chr9:8518143 [GRCh38]
Chr9:8518143 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.561A>G (p.Pro187=) single nucleotide variant PTPRD-related condition [RCV003981678] Chr9:8526634 [GRCh38]
Chr9:8526634 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.1454A>C (p.Gln485Pro) single nucleotide variant PTPRD-related condition [RCV003982324] Chr9:8517937 [GRCh38]
Chr9:8517937 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_002839.4(PTPRD):c.2983C>T (p.Arg995Cys) single nucleotide variant PTPRD-related condition [RCV003976479] Chr9:8485834 [GRCh38]
Chr9:8485834 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.2427T>A (p.Gly809=) single nucleotide variant PTPRD-related condition [RCV003919606] Chr9:8492902 [GRCh38]
Chr9:8492902 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.144G>A (p.Thr48=) single nucleotide variant PTPRD-related condition [RCV003959718] Chr9:8636765 [GRCh38]
Chr9:8636765 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.219G>A (p.Glu73=) single nucleotide variant PTPRD-related condition [RCV003947288] Chr9:8633450 [GRCh38]
Chr9:8633450 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.3300G>A (p.Thr1100=) single nucleotide variant PTPRD-related condition [RCV003942166] Chr9:8484232 [GRCh38]
Chr9:8484232 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.639G>A (p.Ala213=) single nucleotide variant PTPRD-related condition [RCV003949108] Chr9:8524965 [GRCh38]
Chr9:8524965 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.3550A>C (p.Arg1184=) single nucleotide variant PTPRD-related condition [RCV003944169] Chr9:8465630 [GRCh38]
Chr9:8465630 [GRCh37]
Chr9:9p24.1		 likely benign
NM_002839.4(PTPRD):c.3600C>A (p.Pro1200=) single nucleotide variant PTPRD-related condition [RCV003951548] Chr9:8465580 [GRCh38]
Chr9:8465580 [GRCh37]
Chr9:9p24.1		 benign
NM_002839.4(PTPRD):c.3651G>A (p.Lys1217=) single nucleotide variant PTPRD-related condition [RCV003911544] Chr9:8465529 [GRCh38]
Chr9:8465529 [GRCh37]
Chr9:9p24.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:14602
Count of miRNA genes:1149
Interacting mature miRNAs:1441
Transcripts:ENST00000355233, ENST00000356435, ENST00000358503, ENST00000360074, ENST00000381196, ENST00000397606, ENST00000397611, ENST00000397617, ENST00000463477, ENST00000471274, ENST00000477552, ENST00000481079, ENST00000486161, ENST00000488774, ENST00000537002, ENST00000540109
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D9S921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,509,434 - 10,509,623UniSTSGRCh37
Build 36910,499,434 - 10,499,623RGDNCBI36
Celera910,442,135 - 10,442,358RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,473,147 - 10,473,320UniSTS
Marshfield Genetic Map921.88UniSTS
Marshfield Genetic Map921.88RGD
TNG Radiation Hybrid Map94781.0UniSTS
Stanford-G3 RH Map9386.0UniSTS
Whitehead-RH Map946.0UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9146.8UniSTS
D9S1676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,370,124 - 8,370,295UniSTSGRCh37
Build 3698,360,124 - 8,360,295RGDNCBI36
Celera98,304,511 - 8,304,668RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,330,666 - 8,330,823UniSTS
Marshfield Genetic Map918.06RGD
Marshfield Genetic Map918.06UniSTS
Genethon Genetic Map916.8UniSTS
D9S168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,588,261 - 10,588,398UniSTSGRCh37
GRCh37910,588,255 - 10,588,483UniSTSGRCh37
Build 36910,578,261 - 10,578,398RGDNCBI36
Celera910,521,008 - 10,521,236UniSTS
Celera910,521,014 - 10,521,151RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,552,181 - 10,552,318UniSTS
HuRef910,552,175 - 10,552,403UniSTS
Marshfield Genetic Map921.88UniSTS
Marshfield Genetic Map921.88RGD
Genethon Genetic Map920.4UniSTS
TNG Radiation Hybrid Map94724.0UniSTS
deCODE Assembly Map923.22UniSTS
Stanford-G3 RH Map9398.0UniSTS
GeneMap99-GB4 RH Map942.72UniSTS
Whitehead-RH Map945.9UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9134.9UniSTS
GeneMap99-G3 RH Map9398.0UniSTS
GATA187D09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,230,368 - 10,230,550UniSTSGRCh37
Celera910,163,909 - 10,164,107UniSTS
HuRef910,194,938 - 10,195,128UniSTS
Marshfield Genetic Map921.88RGD
D9S775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,016,309 - 10,016,482UniSTSGRCh37
Celera99,952,133 - 9,952,314UniSTS
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,981,564 - 9,981,749UniSTS
Marshfield Genetic Map921.88RGD
Marshfield Genetic Map921.88UniSTS
SHGC-11668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,787,270 - 9,787,394UniSTSGRCh37
Build 3699,777,270 - 9,777,394RGDNCBI36
Celera99,721,734 - 9,721,858RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,752,692 - 9,752,816UniSTS
D9S144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,601,081 - 9,601,225UniSTSGRCh37
Build 3699,591,081 - 9,591,225RGDNCBI36
Celera99,535,499 - 9,535,643RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,566,479 - 9,566,625UniSTS
Whitehead-YAC Contig Map9 UniSTS
WI-10695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,101,429 - 10,101,554UniSTSGRCh37
Build 36910,091,429 - 10,091,554RGDNCBI36
Celera910,036,163 - 10,036,288RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,065,690 - 10,065,815UniSTS
Whitehead-RH Map942.1UniSTS
WI-13888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,808,511 - 8,808,637UniSTSGRCh37
Build 3698,798,511 - 8,798,637RGDNCBI36
Celera98,742,863 - 8,742,989RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,768,779 - 8,768,905UniSTS
GeneMap99-GB4 RH Map930.53UniSTS
Whitehead-RH Map936.1UniSTS
WI-22174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,457,104 - 10,457,325UniSTSGRCh37
Build 36910,447,104 - 10,447,325RGDNCBI36
Celera910,390,099 - 10,390,320RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,420,702 - 10,420,923UniSTS
GeneMap99-GB4 RH Map940.29UniSTS
Whitehead-RH Map946.0UniSTS
D9S2000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,040,088 - 9,040,363UniSTSGRCh37
Build 3699,030,088 - 9,030,363RGDNCBI36
Celera98,974,486 - 8,974,761RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,005,463 - 9,005,738UniSTS
Whitehead-YAC Contig Map9 UniSTS
G31002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,315,096 - 8,315,237UniSTSGRCh37
Build 3698,305,096 - 8,305,237RGDNCBI36
Celera98,249,410 - 8,249,551RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,275,743 - 8,275,884UniSTS
CHLC.GATA84D07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,230,241 - 10,230,600UniSTSGRCh37
Build 36910,220,241 - 10,220,600RGDNCBI36
Celera910,163,781 - 10,164,157RGD
Cytogenetic Map9p23-p24.3UniSTS
Whitehead-YAC Contig Map9 UniSTS
WI-14734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,357,858 - 9,358,007UniSTSGRCh37
Build 3699,347,858 - 9,348,007RGDNCBI36
Celera99,292,265 - 9,292,414RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,323,230 - 9,323,379UniSTS
GeneMap99-GB4 RH Map928.82UniSTS
Whitehead-RH Map935.2UniSTS
RH92488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,528,289 - 8,528,444UniSTSGRCh37
Build 3698,518,289 - 8,518,444RGDNCBI36
Celera98,462,657 - 8,462,812RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,488,665 - 8,488,820UniSTS
GeneMap99-GB4 RH Map930.63UniSTS
RH46233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,807,743 - 8,807,864UniSTSGRCh37
Build 3698,797,743 - 8,797,864RGDNCBI36
Celera98,742,096 - 8,742,217RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,768,012 - 8,768,133UniSTS
RH80157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,698,892 - 8,699,025UniSTSGRCh37
Build 3698,688,892 - 8,689,025RGDNCBI36
Celera98,633,270 - 8,633,403RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,659,224 - 8,659,357UniSTS
GeneMap99-GB4 RH Map928.21UniSTS
SHGC-62953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,733,079 - 9,733,299UniSTSGRCh37
Build 3699,723,079 - 9,723,299RGDNCBI36
Celera99,667,534 - 9,667,754RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,698,506 - 9,698,726UniSTS
SHGC-83223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,464,517 - 8,464,790UniSTSGRCh37
Build 3698,454,517 - 8,454,790RGDNCBI36
Celera98,398,880 - 8,399,154RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,424,847 - 8,425,121UniSTS
TNG Radiation Hybrid Map93936.0UniSTS
RH104468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,389,044 - 8,389,201UniSTSGRCh37
Build 3698,379,044 - 8,379,201RGDNCBI36
Celera98,323,408 - 8,323,565RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,349,538 - 8,349,695UniSTS
GeneMap99-GB4 RH Map930.63UniSTS
SHGC-68795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,001,792 - 10,002,045UniSTSGRCh37
Build 3699,991,792 - 9,992,045RGDNCBI36
Celera99,937,614 - 9,937,867RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,967,049 - 9,967,302UniSTS
TNG Radiation Hybrid Map95023.0UniSTS
SHGC-78136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,025,585 - 10,025,934UniSTSGRCh37
Build 36910,015,585 - 10,015,934RGDNCBI36
Celera99,960,291 - 9,960,640RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,989,729 - 9,990,078UniSTS
SHGC-79710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,567,262 - 8,567,557UniSTSGRCh37
Build 3698,557,262 - 8,557,557RGDNCBI36
Celera98,501,637 - 8,501,932RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,527,630 - 8,527,925UniSTS
TNG Radiation Hybrid Map93994.0UniSTS
SHGC-77892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,187,221 - 10,187,510UniSTSGRCh37
Build 36910,177,221 - 10,177,510RGDNCBI36
Celera910,120,799 - 10,121,088RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,151,814 - 10,152,103UniSTS
TNG Radiation Hybrid Map94946.0UniSTS
SHGC-78649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,942,143 - 9,942,417UniSTSGRCh37
Build 3699,932,143 - 9,932,417RGDNCBI36
Celera99,876,406 - 9,876,680RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,907,429 - 9,907,703UniSTS
TNG Radiation Hybrid Map95072.0UniSTS
SHGC-84491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,853,187 - 8,853,469UniSTSGRCh37
Build 3698,843,187 - 8,843,469RGDNCBI36
Celera98,787,532 - 8,787,814RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,813,463 - 8,813,745UniSTS
TNG Radiation Hybrid Map94110.0UniSTS
SHGC-85022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,313,487 - 10,313,685UniSTSGRCh37
Build 36910,303,487 - 10,303,685RGDNCBI36
Celera910,247,001 - 10,247,199RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,277,842 - 10,278,040UniSTS
TNG Radiation Hybrid Map94876.0UniSTS
RH120363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,449,371 - 9,449,593UniSTSGRCh37
Build 3699,439,371 - 9,439,593RGDNCBI36
Celera99,383,783 - 9,384,005RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,414,734 - 9,414,955UniSTS
TNG Radiation Hybrid Map94375.0UniSTS
RH120181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,362,096 - 8,362,426UniSTSGRCh37
Build 3698,352,096 - 8,352,426RGDNCBI36
Celera98,296,483 - 8,296,813RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,322,638 - 8,322,968UniSTS
TNG Radiation Hybrid Map93899.0UniSTS
RH122763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,370,764 - 10,371,076UniSTSGRCh37
Build 36910,360,764 - 10,361,076RGDNCBI36
Celera910,304,289 - 10,304,601RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,335,127 - 10,335,439UniSTS
TNG Radiation Hybrid Map94839.0UniSTS
RH123132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,596,121 - 8,596,391UniSTSGRCh37
Build 3698,586,121 - 8,586,391RGDNCBI36
Celera98,530,499 - 8,530,769RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,556,494 - 8,556,764UniSTS
TNG Radiation Hybrid Map94020.0UniSTS
RH123693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,589,774 - 8,590,064UniSTSGRCh37
Build 3698,579,774 - 8,580,064RGDNCBI36
Celera98,524,153 - 8,524,443RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,550,148 - 8,550,438UniSTS
TNG Radiation Hybrid Map94008.0UniSTS
RH123842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,746,751 - 9,747,055UniSTSGRCh37
Build 3699,736,751 - 9,737,055RGDNCBI36
Celera99,681,210 - 9,681,514RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,712,176 - 9,712,480UniSTS
TNG Radiation Hybrid Map95825.0UniSTS
G59849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,358,839 - 9,359,058UniSTSGRCh37
Build 3699,348,839 - 9,349,058RGDNCBI36
Celera99,293,246 - 9,293,465RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,324,211 - 9,324,430UniSTS
TNG Radiation Hybrid Map94336.0UniSTS
G60140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,860,629 - 9,860,735UniSTSGRCh37
Build 3699,850,629 - 9,850,735RGDNCBI36
Celera99,795,068 - 9,795,174RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,825,909 - 9,826,015UniSTS
TNG Radiation Hybrid Map95114.0UniSTS
RH118651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,410,619 - 9,410,895UniSTSGRCh37
Build 3699,400,619 - 9,400,895RGDNCBI36
Celera99,345,027 - 9,345,303RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,375,972 - 9,376,248UniSTS
TNG Radiation Hybrid Map94352.0UniSTS
RH118973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,699,590 - 9,699,874UniSTSGRCh37
Build 3699,689,590 - 9,689,874RGDNCBI36
Celera99,634,050 - 9,634,334RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,665,025 - 9,665,309UniSTS
TNG Radiation Hybrid Map95796.0UniSTS
D9S193E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,014,818 - 9,014,940UniSTSGRCh37
Build 3699,004,818 - 9,004,940RGDNCBI36
Celera98,949,218 - 8,949,340RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,980,218 - 8,980,340UniSTS
D9S1044E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,315,756 - 8,315,936UniSTSGRCh37
Build 3698,305,756 - 8,305,936RGDNCBI36
Celera98,250,070 - 8,250,250RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,276,403 - 8,276,583UniSTS
D9S1658E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,454,385 - 10,454,486UniSTSGRCh37
Build 36910,444,385 - 10,444,486RGDNCBI36
Celera910,387,380 - 10,387,481RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,417,983 - 10,418,084UniSTS
SHGC-110451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,007,706 - 9,007,916UniSTSGRCh37
Build 3698,997,706 - 8,997,916RGDNCBI36
Celera98,942,098 - 8,942,309RGD
Cytogenetic Map9p23-p24.3UniSTS
TNG Radiation Hybrid Map94191.0UniSTS
SHGC-106805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,599,185 - 10,599,526UniSTSGRCh37
Build 36910,589,185 - 10,589,526RGDNCBI36
Celera910,531,934 - 10,532,275RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,563,120 - 10,563,461UniSTS
TNG Radiation Hybrid Map94714.0UniSTS
SHGC-106846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,377,495 - 8,377,811UniSTSGRCh37
Build 3698,367,495 - 8,367,811RGDNCBI36
Celera98,311,859 - 8,312,175RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,337,989 - 8,338,305UniSTS
TNG Radiation Hybrid Map93899.0UniSTS
SHGC-132060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,787,289 - 9,787,413UniSTSGRCh37
Build 3699,777,289 - 9,777,413RGDNCBI36
Celera99,721,753 - 9,721,877RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,752,711 - 9,752,835UniSTS
TNG Radiation Hybrid Map95813.0UniSTS
SHGC-141931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,940,642 - 9,940,935UniSTSGRCh37
Build 3699,930,642 - 9,930,935RGDNCBI36
Celera99,874,905 - 9,875,198RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,905,928 - 9,906,221UniSTS
TNG Radiation Hybrid Map95072.0UniSTS
SHGC-148223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,560,297 - 9,560,645UniSTSGRCh37
Build 3699,550,297 - 9,550,645RGDNCBI36
Celera99,494,717 - 9,495,065RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,525,703 - 9,526,051UniSTS
TNG Radiation Hybrid Map95741.0UniSTS
SHGC-149248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,439,910 - 10,440,232UniSTSGRCh37
Build 36910,429,910 - 10,430,232RGDNCBI36
Celera910,372,905 - 10,373,227RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,403,508 - 10,403,830UniSTS
TNG Radiation Hybrid Map94813.0UniSTS
SHGC-149821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,473,272 - 8,473,551UniSTSGRCh37
Build 3698,463,272 - 8,463,551RGDNCBI36
Celera98,407,635 - 8,407,914RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,433,600 - 8,433,879UniSTS
TNG Radiation Hybrid Map93946.0UniSTS
A009G40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,214,568 - 10,214,726UniSTSGRCh37
Build 36910,204,568 - 10,204,726RGDNCBI36
Celera910,148,104 - 10,148,262RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,179,131 - 10,179,289UniSTS
GeneMap99-GB4 RH Map937.37UniSTS
D9S912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,432,010 - 9,432,156UniSTSGRCh37
Build 3699,422,010 - 9,422,156RGDNCBI36
Celera99,366,424 - 9,366,570RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,397,374 - 9,397,520UniSTS
L18408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,008,084 - 9,008,281UniSTSGRCh37
Build 3698,998,084 - 8,998,281RGDNCBI36
Celera98,942,477 - 8,942,686RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef1150,452,101 - 150,453,080UniSTS
HuRef98,973,481 - 8,973,690UniSTS
RH47322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,315,729 - 8,315,901UniSTSGRCh37
Build 3698,305,729 - 8,305,901RGDNCBI36
Celera98,250,043 - 8,250,215RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,276,376 - 8,276,548UniSTS
GeneMap99-GB4 RH Map930.63UniSTS
NCBI RH Map971.2UniSTS
WI-15507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,921,674 - 9,921,808UniSTSGRCh37
Build 3699,911,674 - 9,911,808RGDNCBI36
Celera99,856,122 - 9,856,256RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,886,959 - 9,887,093UniSTS
GeneMap99-GB4 RH Map935.94UniSTS
Whitehead-RH Map942.2UniSTS
SHGC-154932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,351,982 - 8,352,303UniSTSGRCh37
Build 3698,341,982 - 8,342,303RGDNCBI36
Celera98,286,368 - 8,286,690RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,312,754 - 8,313,076UniSTS
TNG Radiation Hybrid Map93896.0UniSTS
WIAF-1582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,358,832 - 9,359,090UniSTSGRCh37
Build 3699,348,832 - 9,349,090RGDNCBI36
Celera99,293,239 - 9,293,497RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,324,204 - 9,324,462UniSTS
GeneMap99-GB4 RH Map930.73UniSTS
AB063044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,589,120 - 8,589,238UniSTSGRCh37
Build 3698,579,120 - 8,579,238RGDNCBI36
Celera98,523,499 - 8,523,617RGD
HuRef98,549,494 - 8,549,612UniSTS
D9S1132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,998,804 - 9,998,979UniSTSGRCh37
Build 3699,988,804 - 9,988,979RGDNCBI36
Celera99,934,626 - 9,934,801RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,964,061 - 9,964,236UniSTS
Whitehead-YAC Contig Map9 UniSTS
D16S2634  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera98,304,307 - 8,304,486RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,330,462 - 8,330,641UniSTS
Whitehead-YAC Contig Map16 UniSTS
SHGC-57512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,464,938 - 8,465,062UniSTSGRCh37
Build 3698,454,938 - 8,455,062RGDNCBI36
Celera98,399,302 - 8,399,426RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,425,269 - 8,425,393UniSTS
TNG Radiation Hybrid Map93939.0UniSTS
AFM275yb9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,889,719 - 9,889,937UniSTSGRCh37
Build 3699,879,719 - 9,879,937RGDNCBI36
Celera99,824,158 - 9,824,376RGD
HuRef99,854,999 - 9,855,217UniSTS
Whitehead-RH Map940.6UniSTS
Whitehead-YAC Contig Map9 UniSTS
G17324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,601,466 - 8,601,707UniSTSGRCh37
Build 3698,591,466 - 8,591,707RGDNCBI36
Celera98,535,844 - 8,536,085RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,561,834 - 8,562,075UniSTS
A003M12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,315,183 - 8,315,300UniSTSGRCh37
Build 3698,305,183 - 8,305,300RGDNCBI36
Celera98,249,497 - 8,249,614RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,275,830 - 8,275,947UniSTS
GeneMap99-GB4 RH Map932.96UniSTS
Whitehead-RH Map937.8UniSTS
A004N43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,921,662 - 9,921,802UniSTSGRCh37
Build 3699,911,662 - 9,911,802RGDNCBI36
Celera99,856,110 - 9,856,250RGD
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,886,947 - 9,887,087UniSTS
GeneMap99-GB4 RH Map936.05UniSTS
FCA1266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,858,724 - 8,858,899UniSTSGRCh37
Celera98,793,069 - 8,793,242UniSTS
HuRef98,819,000 - 8,819,173UniSTS
LEX063  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef98,818,981 - 8,819,239UniSTS
SGC35386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,317,423 - 8,317,863UniSTSGRCh37
Celera98,251,737 - 8,252,177UniSTS
Cytogenetic Map9p23-p24.3UniSTS
HuRef98,278,070 - 8,278,510UniSTS
GeneMap99-GB4 RH Map929.23UniSTS
Whitehead-RH Map936.1UniSTS
NCBI RH Map991.6UniSTS
G32533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37910,214,568 - 10,214,726UniSTSGRCh37
Celera910,148,104 - 10,148,262UniSTS
Cytogenetic Map9p23-p24.3UniSTS
HuRef910,179,131 - 10,179,289UniSTS
G54705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3799,860,592 - 9,860,790UniSTSGRCh37
Celera99,795,031 - 9,795,229UniSTS
Cytogenetic Map9p23-p24.3UniSTS
HuRef99,825,872 - 9,826,070UniSTS
PTPRD  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3798,340,358 - 8,341,196UniSTSGRCh37
Celera98,274,681 - 8,275,519UniSTS
HuRef98,301,041 - 8,301,879UniSTS
GDB:582179  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p23-p24.3UniSTS
GDB:582183  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p23-p24.3UniSTS
GDB:582186  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p23-p24.3UniSTS
D9S168  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p23-p24.3UniSTS
TNG Radiation Hybrid Map94724.0UniSTS
Stanford-G3 RH Map9398.0UniSTS
GeneMap99-GB4 RH Map942.72UniSTS
NCBI RH Map9134.9UniSTS
GeneMap99-G3 RH Map9398.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 77 456 145 15 46 15 219 20 2059 120 258 259 12 42 1
Low 2171 1656 1407 511 393 401 3235 1631 1612 246 1050 1210 112 1178 2150 1
Below cutoff 123 764 150 84 912 33 863 527 45 32 84 74 53 1 14 596

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB211400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL441884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL596451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL669908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM680342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR001889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L38929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC106313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC106317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000355233   ⟹   ENSP00000347373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,314,247 - 8,733,946 (-)Ensembl
RefSeq Acc Id: ENST00000356435   ⟹   ENSP00000348812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,314,247 - 8,733,949 (-)Ensembl
RefSeq Acc Id: ENST00000381196   ⟹   ENSP00000370593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,314,246 - 10,613,002 (-)Ensembl
RefSeq Acc Id: ENST00000397606   ⟹   ENSP00000380731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,317,405 - 8,733,894 (-)Ensembl
RefSeq Acc Id: ENST00000397611   ⟹   ENSP00000380735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,314,247 - 8,733,949 (-)Ensembl
RefSeq Acc Id: ENST00000397617   ⟹   ENSP00000380741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,314,247 - 8,733,946 (-)Ensembl
RefSeq Acc Id: ENST00000463477   ⟹   ENSP00000417661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,528,152 - 10,612,723 (-)Ensembl
RefSeq Acc Id: ENST00000471274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,485,763 - 8,501,059 (-)Ensembl
RefSeq Acc Id: ENST00000477552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,484,238 - 8,485,636 (-)Ensembl
RefSeq Acc Id: ENST00000481079   ⟹   ENSP00000417890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,633,390 - 8,857,776 (-)Ensembl
RefSeq Acc Id: ENST00000486161   ⟹   ENSP00000417093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,317,404 - 8,733,894 (-)Ensembl
RefSeq Acc Id: ENST00000488774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,524,949 - 8,633,460 (-)Ensembl
RefSeq Acc Id: ENST00000537002   ⟹   ENSP00000440515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,314,247 - 8,733,949 (-)Ensembl
RefSeq Acc Id: ENST00000540109   ⟹   ENSP00000438164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,317,277 - 8,733,949 (-)Ensembl
RefSeq Acc Id: ENST00000637354   ⟹   ENSP00000490377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,436,647 - 8,484,259 (-)Ensembl
RefSeq Acc Id: ENST00000651105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl98,314,251 - 8,534,952 (-)Ensembl
RefSeq Acc Id: NM_001040712   ⟹   NP_001035802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,733,946 (-)NCBI
GRCh3798,314,246 - 10,612,723 (-)ENTREZGENE
GRCh3798,314,246 - 10,612,723 (-)NCBI
Build 3698,304,246 - 10,602,509 (-)NCBI Archive
HuRef98,274,893 - 10,576,645 (-)ENTREZGENE
CHM1_198,314,050 - 8,734,178 (-)NCBI
T2T-CHM13v2.098,320,802 - 8,740,461 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171025   ⟹   NP_001164496
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
GRCh3798,314,246 - 10,612,723 (-)NCBI
HuRef98,274,893 - 10,576,645 (-)ENTREZGENE
CHM1_198,314,050 - 8,734,178 (-)NCBI
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377946   ⟹   NP_001364875
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377947   ⟹   NP_001364876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377958   ⟹   NP_001364887
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378058   ⟹   NP_001364987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002839   ⟹   NP_002830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,613,002 (-)NCBI
GRCh3798,314,246 - 10,612,723 (-)NCBI
Build 3698,304,246 - 10,602,509 (-)NCBI Archive
HuRef98,274,893 - 10,576,645 (-)ENTREZGENE
CHM1_198,314,050 - 10,612,534 (-)NCBI
T2T-CHM13v2.098,320,802 - 10,622,316 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130391   ⟹   NP_569075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,779,391 (-)NCBI
GRCh3798,314,246 - 10,612,723 (-)ENTREZGENE
GRCh3798,314,246 - 10,612,723 (-)NCBI
Build 3698,304,246 - 10,602,509 (-)NCBI Archive
HuRef98,274,893 - 10,576,645 (-)ENTREZGENE
CHM1_198,314,050 - 8,734,178 (-)NCBI
T2T-CHM13v2.098,320,802 - 8,785,895 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130392   ⟹   NP_569076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,733,946 (-)NCBI
GRCh3798,314,246 - 10,612,723 (-)ENTREZGENE
Build 3698,304,246 - 10,602,509 (-)NCBI Archive
HuRef98,274,893 - 10,576,645 (-)ENTREZGENE
CHM1_198,314,050 - 8,734,178 (-)NCBI
T2T-CHM13v2.098,320,802 - 8,740,461 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130393   ⟹   NP_569077
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,733,946 (-)NCBI
GRCh3798,314,246 - 10,612,723 (-)ENTREZGENE
GRCh3798,314,246 - 10,612,723 (-)NCBI
Build 3698,304,246 - 10,602,509 (-)NCBI Archive
HuRef98,274,893 - 10,576,645 (-)ENTREZGENE
CHM1_198,314,050 - 8,734,178 (-)NCBI
T2T-CHM13v2.098,320,802 - 8,740,461 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716817   ⟹   XP_006716880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716823   ⟹   XP_006716886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716825   ⟹   XP_006716888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716827   ⟹   XP_006716890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014958   ⟹   XP_016870447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014961   ⟹   XP_016870450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014963   ⟹   XP_016870452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014964   ⟹   XP_016870453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014965   ⟹   XP_016870454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014966   ⟹   XP_016870455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014967   ⟹   XP_016870456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014968   ⟹   XP_016870457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014969   ⟹   XP_016870458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014970   ⟹   XP_016870459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014971   ⟹   XP_016870460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014972   ⟹   XP_016870461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014974   ⟹   XP_016870463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014976   ⟹   XP_016870465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014977   ⟹   XP_016870466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014978   ⟹   XP_016870467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014979   ⟹   XP_016870468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014980   ⟹   XP_016870469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014982   ⟹   XP_016870471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014983   ⟹   XP_016870472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447625   ⟹   XP_024303393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423641   ⟹   XP_047279597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423642   ⟹   XP_047279598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423643   ⟹   XP_047279599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
RefSeq Acc Id: XM_047423644   ⟹   XP_047279600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423645   ⟹   XP_047279601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423646   ⟹   XP_047279602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
RefSeq Acc Id: XM_047423647   ⟹   XP_047279603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423648   ⟹   XP_047279604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
RefSeq Acc Id: XM_047423649   ⟹   XP_047279605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423650   ⟹   XP_047279606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423651   ⟹   XP_047279607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423652   ⟹   XP_047279608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423653   ⟹   XP_047279609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423654   ⟹   XP_047279610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423655   ⟹   XP_047279611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
RefSeq Acc Id: XM_047423656   ⟹   XP_047279612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
RefSeq Acc Id: XM_047423657   ⟹   XP_047279613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 10,612,505 (-)NCBI
RefSeq Acc Id: XM_047423658   ⟹   XP_047279614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
RefSeq Acc Id: XM_047423659   ⟹   XP_047279615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
RefSeq Acc Id: XM_047423660   ⟹   XP_047279616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,314,246 - 8,857,867 (-)NCBI
RefSeq Acc Id: XM_054363389   ⟹   XP_054219364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363390   ⟹   XP_054219365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363391   ⟹   XP_054219366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363392   ⟹   XP_054219367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363393   ⟹   XP_054219368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363394   ⟹   XP_054219369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363395   ⟹   XP_054219370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363396   ⟹   XP_054219371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363397   ⟹   XP_054219372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363398   ⟹   XP_054219373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363399   ⟹   XP_054219374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363400   ⟹   XP_054219375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363401   ⟹   XP_054219376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363402   ⟹   XP_054219377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363403   ⟹   XP_054219378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363404   ⟹   XP_054219379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363405   ⟹   XP_054219380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363406   ⟹   XP_054219381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
RefSeq Acc Id: XM_054363407   ⟹   XP_054219382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363408   ⟹   XP_054219383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363409   ⟹   XP_054219384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363410   ⟹   XP_054219385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363411   ⟹   XP_054219386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363412   ⟹   XP_054219387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363413   ⟹   XP_054219388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363414   ⟹   XP_054219389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
RefSeq Acc Id: XM_054363415   ⟹   XP_054219390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363416   ⟹   XP_054219391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363417   ⟹   XP_054219392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
RefSeq Acc Id: XM_054363418   ⟹   XP_054219393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363419   ⟹   XP_054219394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363420   ⟹   XP_054219395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363421   ⟹   XP_054219396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363422   ⟹   XP_054219397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363423   ⟹   XP_054219398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363424   ⟹   XP_054219399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363425   ⟹   XP_054219400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
RefSeq Acc Id: XM_054363426   ⟹   XP_054219401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
RefSeq Acc Id: XM_054363427   ⟹   XP_054219402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363428   ⟹   XP_054219403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363429   ⟹   XP_054219404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
RefSeq Acc Id: XM_054363430   ⟹   XP_054219405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
RefSeq Acc Id: XM_054363431   ⟹   XP_054219406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 8,864,302 (-)NCBI
RefSeq Acc Id: XM_054363432   ⟹   XP_054219407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
RefSeq Acc Id: XM_054363433   ⟹   XP_054219408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.098,320,802 - 10,621,819 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001035802 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164496 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364875 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364876 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364887 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364987 (Get FASTA)   NCBI Sequence Viewer  
  NP_002830 (Get FASTA)   NCBI Sequence Viewer  
  NP_569075 (Get FASTA)   NCBI Sequence Viewer  
  NP_569076 (Get FASTA)   NCBI Sequence Viewer  
  NP_569077 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716880 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716886 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716888 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716890 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870447 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870450 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870452 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870453 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870454 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870455 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870456 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870457 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870458 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870459 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870460 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870461 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870463 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870465 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870466 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870467 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870468 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870469 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870471 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870472 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303393 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279597 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279598 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279599 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279600 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279601 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279602 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279603 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279604 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279605 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279606 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279607 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279608 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279609 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279610 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279611 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279612 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279613 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279614 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279615 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279616 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219364 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219365 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219366 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219367 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219368 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219369 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219370 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219371 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219372 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219373 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219374 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219375 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219376 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219377 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219378 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219379 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219380 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219381 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219382 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219383 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219384 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219385 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219386 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219387 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219388 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219389 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219390 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219391 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219392 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219394 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219395 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219396 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219397 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219398 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219399 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219400 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219401 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219402 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219403 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219404 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219405 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219406 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219407 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219408 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC41749 (Get FASTA)   NCBI Sequence Viewer  
  AAI06714 (Get FASTA)   NCBI Sequence Viewer  
  AAI06715 (Get FASTA)   NCBI Sequence Viewer  
  AAI06716 (Get FASTA)   NCBI Sequence Viewer  
  AAI06717 (Get FASTA)   NCBI Sequence Viewer  
  BAD92106 (Get FASTA)   NCBI Sequence Viewer  
  BAE79816 (Get FASTA)   NCBI Sequence Viewer  
  BAG59060 (Get FASTA)   NCBI Sequence Viewer  
  BAV00950 (Get FASTA)   NCBI Sequence Viewer  
  BAV00953 (Get FASTA)   NCBI Sequence Viewer  
  CAA38068 (Get FASTA)   NCBI Sequence Viewer  
  EAW58718 (Get FASTA)   NCBI Sequence Viewer  
  EAW58719 (Get FASTA)   NCBI Sequence Viewer  
  EAW58720 (Get FASTA)   NCBI Sequence Viewer  
  EAW58721 (Get FASTA)   NCBI Sequence Viewer  
  EAW58722 (Get FASTA)   NCBI Sequence Viewer  
  EAW58723 (Get FASTA)   NCBI Sequence Viewer  
  EAW58724 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000347373
  ENSP00000347373.5
  ENSP00000348812.5
  ENSP00000370593
  ENSP00000370593.3
  ENSP00000380731
  ENSP00000380731.3
  ENSP00000380735
  ENSP00000380735.3
  ENSP00000380741.4
  ENSP00000417093
  ENSP00000417093.1
  ENSP00000417661.1
  ENSP00000417890.1
  ENSP00000438164.1
  ENSP00000440515
  ENSP00000440515.2
  ENSP00000490377.1
GenBank Protein P23468 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_002830   ⟸   NM_002839
- Peptide Label: isoform 1 precursor
- UniProtKB: Q3KPJ1 (UniProtKB/Swiss-Prot),   Q3KPJ0 (UniProtKB/Swiss-Prot),   F5GWT7 (UniProtKB/Swiss-Prot),   B1ALA0 (UniProtKB/Swiss-Prot),   Q3KPJ2 (UniProtKB/Swiss-Prot),   P23468 (UniProtKB/Swiss-Prot),   Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035802   ⟸   NM_001040712
- Peptide Label: isoform 5 precursor
- UniProtKB: F5GWR7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164496   ⟸   NM_001171025
- Peptide Label: isoform 6 precursor
- UniProtKB: F5GWR7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_569077   ⟸   NM_130393
- Peptide Label: isoform 4 precursor
- UniProtKB: Q3KPI9 (UniProtKB/TrEMBL),   F5GWR7 (UniProtKB/TrEMBL),   F5GWY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_569075   ⟸   NM_130391
- Peptide Label: isoform 2 precursor
- UniProtKB: F5GWR7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_569076   ⟸   NM_130392
- Peptide Label: isoform 3 precursor
- UniProtKB: F5GWR7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716890   ⟸   XM_006716827
- Peptide Label: isoform X38
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716880   ⟸   XM_006716817
- Peptide Label: isoform X5
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716888   ⟸   XM_006716825
- Peptide Label: isoform X25
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716886   ⟸   XM_006716823
- Peptide Label: isoform X22
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870454   ⟸   XM_017014965
- Peptide Label: isoform X4
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870450   ⟸   XM_017014961
- Peptide Label: isoform X1
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870455   ⟸   XM_017014966
- Peptide Label: isoform X6
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870458   ⟸   XM_017014969
- Peptide Label: isoform X11
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870463   ⟸   XM_017014974
- Peptide Label: isoform X15
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870461   ⟸   XM_017014972
- Peptide Label: isoform X14
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870459   ⟸   XM_017014970
- Peptide Label: isoform X10
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870452   ⟸   XM_017014963
- Peptide Label: isoform X3
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870447   ⟸   XM_017014958
- Peptide Label: isoform X1
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870453   ⟸   XM_017014964
- Peptide Label: isoform X2
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870468   ⟸   XM_017014979
- Peptide Label: isoform X21
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870460   ⟸   XM_017014971
- Peptide Label: isoform X13
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870456   ⟸   XM_017014967
- Peptide Label: isoform X7
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870466   ⟸   XM_017014977
- Peptide Label: isoform X17
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870457   ⟸   XM_017014968
- Peptide Label: isoform X8
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870465   ⟸   XM_017014976
- Peptide Label: isoform X18
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870472   ⟸   XM_017014983
- Peptide Label: isoform X43
- UniProtKB: F5GWR7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870471   ⟸   XM_017014982
- Peptide Label: isoform X42
- UniProtKB: F5GWR7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870469   ⟸   XM_017014980
- Peptide Label: isoform X31
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870467   ⟸   XM_017014978
- Peptide Label: isoform X20
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303393   ⟸   XM_024447625
- Peptide Label: isoform X12
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364875   ⟸   NM_001377946
- Peptide Label: isoform 7 precursor
- UniProtKB: F5GWR7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364987   ⟸   NM_001378058
- Peptide Label: isoform 10 precursor
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364887   ⟸   NM_001377958
- Peptide Label: isoform 9 precursor
- UniProtKB: Q2HXI4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364876   ⟸   NM_001377947
- Peptide Label: isoform 8 precursor
- UniProtKB: F5GWR7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000417661   ⟸   ENST00000463477
RefSeq Acc Id: ENSP00000490377   ⟸   ENST00000637354
RefSeq Acc Id: ENSP00000417890   ⟸   ENST00000481079
RefSeq Acc Id: ENSP00000440515   ⟸   ENST00000537002
RefSeq Acc Id: ENSP00000417093   ⟸   ENST00000486161
RefSeq Acc Id: ENSP00000347373   ⟸   ENST00000355233
RefSeq Acc Id: ENSP00000348812   ⟸   ENST00000356435
RefSeq Acc Id: ENSP00000370593   ⟸   ENST00000381196
RefSeq Acc Id: ENSP00000380731   ⟸   ENST00000397606
RefSeq Acc Id: ENSP00000380741   ⟸   ENST00000397617
RefSeq Acc Id: ENSP00000380735   ⟸   ENST00000397611
RefSeq Acc Id: ENSP00000438164   ⟸   ENST00000540109
RefSeq Acc Id: XP_047279605   ⟸   XM_047423649
- Peptide Label: isoform X28
RefSeq Acc Id: XP_047279607   ⟸   XM_047423651
- Peptide Label: isoform X30
RefSeq Acc Id: XP_047279613   ⟸   XM_047423657
- Peptide Label: isoform X37
RefSeq Acc Id: XP_047279609   ⟸   XM_047423653
- Peptide Label: isoform X33
RefSeq Acc Id: XP_047279601   ⟸   XM_047423645
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047279610   ⟸   XM_047423654
- Peptide Label: isoform X34
RefSeq Acc Id: XP_047279600   ⟸   XM_047423644
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047279608   ⟸   XM_047423652
- Peptide Label: isoform X32
RefSeq Acc Id: XP_047279606   ⟸   XM_047423650
- Peptide Label: isoform X29
RefSeq Acc Id: XP_047279603   ⟸   XM_047423647
- Peptide Label: isoform X26
RefSeq Acc Id: XP_047279598   ⟸   XM_047423642
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047279597   ⟸   XM_047423641
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279616   ⟸   XM_047423660
- Peptide Label: isoform X41
RefSeq Acc Id: XP_047279615   ⟸   XM_047423659
- Peptide Label: isoform X40
RefSeq Acc Id: XP_047279604   ⟸   XM_047423648
- Peptide Label: isoform X27
RefSeq Acc Id: XP_047279614   ⟸   XM_047423658
- Peptide Label: isoform X39
RefSeq Acc Id: XP_047279602   ⟸   XM_047423646
- Peptide Label: isoform X24
RefSeq Acc Id: XP_047279612   ⟸   XM_047423656
- Peptide Label: isoform X36
RefSeq Acc Id: XP_047279611   ⟸   XM_047423655
- Peptide Label: isoform X35
RefSeq Acc Id: XP_047279599   ⟸   XM_047423643
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054219365   ⟸   XM_054363390
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219403   ⟸   XM_054363428
- Peptide Label: isoform X38
RefSeq Acc Id: XP_054219393   ⟸   XM_054363418
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054219395   ⟸   XM_054363420
- Peptide Label: isoform X30
RefSeq Acc Id: XP_054219402   ⟸   XM_054363427
- Peptide Label: isoform X37
RefSeq Acc Id: XP_054219398   ⟸   XM_054363423
- Peptide Label: isoform X33
RefSeq Acc Id: XP_054219378   ⟸   XM_054363403
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054219377   ⟸   XM_054363402
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054219371   ⟸   XM_054363396
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054219376   ⟸   XM_054363401
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054219388   ⟸   XM_054363413
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054219372   ⟸   XM_054363397
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054219408   ⟸   XM_054363433
- Peptide Label: isoform X43
RefSeq Acc Id: XP_054219407   ⟸   XM_054363432
- Peptide Label: isoform X42
RefSeq Acc Id: XP_054219399   ⟸   XM_054363424
- Peptide Label: isoform X34
RefSeq Acc Id: XP_054219396   ⟸   XM_054363421
- Peptide Label: isoform X31
RefSeq Acc Id: XP_054219384   ⟸   XM_054363409
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054219380   ⟸   XM_054363405
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054219397   ⟸   XM_054363422
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054219394   ⟸   XM_054363419
- Peptide Label: isoform X29
RefSeq Acc Id: XP_054219382   ⟸   XM_054363407
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054219379   ⟸   XM_054363404
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054219391   ⟸   XM_054363416
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054219370   ⟸   XM_054363395
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054219374   ⟸   XM_054363399
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054219367   ⟸   XM_054363392
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219390   ⟸   XM_054363415
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054219375   ⟸   XM_054363400
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054219386   ⟸   XM_054363411
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054219369   ⟸   XM_054363394
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054219387   ⟸   XM_054363412
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054219373   ⟸   XM_054363398
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054219385   ⟸   XM_054363410
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054219368   ⟸   XM_054363393
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219383   ⟸   XM_054363408
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054219364   ⟸   XM_054363389
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219366   ⟸   XM_054363391
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219406   ⟸   XM_054363431
- Peptide Label: isoform X41
RefSeq Acc Id: XP_054219405   ⟸   XM_054363430
- Peptide Label: isoform X40
RefSeq Acc Id: XP_054219392   ⟸   XM_054363417
- Peptide Label: isoform X27
RefSeq Acc Id: XP_054219404   ⟸   XM_054363429
- Peptide Label: isoform X39
RefSeq Acc Id: XP_054219389   ⟸   XM_054363414
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054219401   ⟸   XM_054363426
- Peptide Label: isoform X36
RefSeq Acc Id: XP_054219400   ⟸   XM_054363425
- Peptide Label: isoform X35
RefSeq Acc Id: XP_054219381   ⟸   XM_054363406
- Peptide Label: isoform X16
Protein Domains
Fibronectin type-III   Ig-like   Ig-like C2-type   Tyrosine specific protein phosphatases   Tyrosine-protein phosphatase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23468-F1-model_v2 AlphaFold P23468 1-1912 view protein structure

Promoters
RGD ID:7214669
Promoter ID:EPDNEW_H13079
Type:initiation region
Name:PTPRD_2
Description:protein tyrosine phosphatase, receptor type D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13080  EPDNEW_H13081  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,733,876 - 8,733,936EPDNEW
RGD ID:7214667
Promoter ID:EPDNEW_H13080
Type:initiation region
Name:PTPRD_1
Description:protein tyrosine phosphatase, receptor type D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13079  EPDNEW_H13081  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3898,857,867 - 8,857,927EPDNEW
RGD ID:7214671
Promoter ID:EPDNEW_H13081
Type:initiation region
Name:PTPRD_3
Description:protein tyrosine phosphatase, receptor type D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13080  EPDNEW_H13079  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38910,612,685 - 10,612,745EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9668 AgrOrtholog
COSMIC PTPRD COSMIC
Ensembl Genes ENSG00000153707 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000355233 ENTREZGENE
  ENST00000355233.9 UniProtKB/Swiss-Prot
  ENST00000356435.9 UniProtKB/Swiss-Prot
  ENST00000381196 ENTREZGENE
  ENST00000381196.9 UniProtKB/Swiss-Prot
  ENST00000397606 ENTREZGENE
  ENST00000397606.7 UniProtKB/Swiss-Prot
  ENST00000397611 ENTREZGENE
  ENST00000397611.7 UniProtKB/Swiss-Prot
  ENST00000397617.8 UniProtKB/TrEMBL
  ENST00000463477.5 UniProtKB/TrEMBL
  ENST00000481079.1 UniProtKB/TrEMBL
  ENST00000486161 ENTREZGENE
  ENST00000486161.5 UniProtKB/Swiss-Prot
  ENST00000537002 ENTREZGENE
  ENST00000537002.5 UniProtKB/TrEMBL
  ENST00000540109.5 UniProtKB/Swiss-Prot
  ENST00000637354.1 UniProtKB/TrEMBL
  ENST00000651105 ENTREZGENE
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000153707 GTEx
HGNC ID HGNC:9668 ENTREZGENE
Human Proteome Map PTPRD Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPase_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  R-PTP-delta_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5789 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5789 ENTREZGENE
OMIM 601598 OMIM
PANTHER BASIGIN RELATED UniProtKB/TrEMBL
  CYTOKINE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN TYROSINE PHOSPHATASE RECEPTOR TYPE S UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ROUNDABOUT HOMOLOG 3 UniProtKB/TrEMBL
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Y_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34013 PharmGKB
PRINTS FNTYPEIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRTYPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_PTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GU15_HUMAN UniProtKB/TrEMBL
  A0A1Y0ZJV0_HUMAN UniProtKB/TrEMBL
  A0A1Y0ZSN9_HUMAN UniProtKB/TrEMBL
  B1ALA0 ENTREZGENE
  C9J6E4_HUMAN UniProtKB/TrEMBL
  C9J8S8_HUMAN UniProtKB/TrEMBL
  F5GWR7 ENTREZGENE, UniProtKB/TrEMBL
  F5GWT7 ENTREZGENE
  F5GWY7 ENTREZGENE
  P23468 ENTREZGENE, UniProtKB/Swiss-Prot
  Q2HXI4 ENTREZGENE, UniProtKB/TrEMBL
  Q3KPI9 ENTREZGENE, UniProtKB/TrEMBL
  Q3KPJ0 ENTREZGENE
  Q3KPJ1 ENTREZGENE
  Q3KPJ2 ENTREZGENE
  Q59H90_HUMAN UniProtKB/TrEMBL
UniProt Secondary B1ALA0 UniProtKB/Swiss-Prot
  F5GWT7 UniProtKB/Swiss-Prot
  F5GWY7 UniProtKB/TrEMBL
  Q3KPJ0 UniProtKB/Swiss-Prot
  Q3KPJ1 UniProtKB/Swiss-Prot
  Q3KPJ2 UniProtKB/Swiss-Prot


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