PRICKLE1 (prickle planar cell polarity protein 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PRICKLE1 (prickle planar cell polarity protein 1) Homo sapiens
Analyze
Symbol: PRICKLE1
Name: prickle planar cell polarity protein 1
RGD ID: 1346789
HGNC Page HGNC:17019
Description: Predicted to enable zinc ion binding activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; negative regulation of cardiac muscle cell myoblast differentiation; and positive regulation of protein metabolic process. Located in cytosol and nuclear membrane. Implicated in progressive myoclonus epilepsy 1B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EPM1B; FLJ31627; FLJ31937; MGC138902; MGC138903; prickle homolog 1; prickle-like 1; prickle-like protein 1; REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein; REST/NRSF-interacting LIM domain protein 1; RILP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PRICKLE1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381242,456,757 - 42,589,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1242,456,757 - 42,590,355 (-)EnsemblGRCh38hg38GRCh38
GRCh371242,850,559 - 42,983,548 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361241,139,341 - 41,269,745 (-)NCBINCBI36Build 36hg18NCBI36
Build 341241,139,340 - 41,269,745NCBI
Celera1241,653,996 - 41,785,497 (-)NCBICelera
Cytogenetic Map12q12NCBI
HuRef1239,878,936 - 40,010,599 (-)NCBIHuRef
CHM1_11242,818,791 - 42,950,331 (-)NCBICHM1_1
T2T-CHM13v2.01242,414,615 - 42,547,546 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
butan-1-ol  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
cisplatin  (EXP)
cobalt atom  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (EXP)
cylindrospermopsin  (EXP)
cytarabine  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
flusilazole  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
isobutanol  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
Monobutylphthalate  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sotorasib  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
torcetrapib  (EXP)
trametinib  (EXP)
triadimefon  (EXP)
trichostatin A  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (IEA)
anterior visceral endoderm cell migration  (IEA)
aorta development  (IEA,ISO)
apoptotic process  (IEA)
axonogenesis  (IEA)
basement membrane organization  (IEA)
bone mineralization  (IEA)
cardiac muscle cell development  (IEA)
cell migration  (IEA)
cell-cell adhesion  (IEA)
cilium assembly  (IEA)
cilium organization  (IEA)
cornea development in camera-type eye  (IEA)
coronary vasculature development  (IEA,ISO)
cytoskeleton organization  (IEA)
cytoskeleton-dependent intracellular transport  (IEA)
dendrite development  (IEA)
embryonic brain development  (IEA)
embryonic digit morphogenesis  (IEA)
embryonic limb morphogenesis  (IEA)
embryonic nail plate morphogenesis  (IEA)
epidermal growth factor receptor signaling pathway  (IEA)
establishment of bipolar cell polarity involved in cell morphogenesis  (IEA)
establishment of cell polarity  (IEA)
establishment of protein localization  (IEA)
establishment or maintenance of cell polarity  (IEA)
extracellular matrix assembly  (IEA)
eyelid development in camera-type eye  (IEA)
face morphogenesis  (IEA)
focal adhesion disassembly  (IEA)
gene expression  (IEA)
heart development  (IEA)
limb development  (IEA)
limb morphogenesis  (IEA)
maintenance of postsynaptic density structure  (IEA)
mesenchyme development  (IEA)
mitotic spindle assembly  (IEA)
multicellular organism growth  (IEA)
negative regulation of canonical Wnt signaling pathway  (IDA)
negative regulation of cardiac muscle cell myoblast differentiation  (IDA)
negative regulation of DNA-templated transcription  (IDA)
neural tube closure  (IEA,IMP)
neuron projection development  (IEA)
neuron projection extension  (IEA)
neuron projection morphogenesis  (IEA)
outflow tract morphogenesis  (IEA)
polarized secretion of basement membrane proteins in epithelium  (IEA)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IDA)
positive regulation of protein ubiquitination  (IDA)
post-anal tail morphogenesis  (IEA)
primitive streak formation  (IEA)
programmed cell death  (IEA)
protein import into nucleus  (IDA,IMP,ISO)
regulation of postsynaptic density assembly  (IEA)
renal tubule development  (IEA)
response to electrical stimulus  (IEA)
response to xenobiotic stimulus  (IEA)
tear secretion  (IEA)
tissue development  (IEA)
tissue homeostasis  (IEA)
vesicle-mediated transport  (IEA)
Wnt signaling pathway  (IEA)
Wnt signaling pathway, planar cell polarity pathway  (IEA,NAS)

Cellular Component
cell trailing edge  (IEA,ISO)
cytoplasm  (IEA)
cytosol  (IDA,IEA,TAS)
endomembrane system  (IEA)
glutamatergic synapse  (IEA,ISO)
membrane  (IEA,ISO)
nuclear membrane  (IDA,IEA)
nucleus  (IDA,IEA)
postsynaptic density  (IEA,ISO)
proteasome complex  (IEA)

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Planar cell polarity signaling in vertebrates. Jones C and Chen P, Bioessays. 2007 Feb;29(2):120-32.
3. Neuron-restrictive silencer factor-mediated hyperpolarization-activated cyclic nucleotide gated channelopathy in experimental temporal lobe epilepsy. McClelland S, etal., Ann Neurol. 2011 Sep;70(3):454-64. doi: 10.1002/ana.22479.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:12525887   PMID:12941693   PMID:14645515   PMID:14702039   PMID:15009665   PMID:15146197   PMID:15489334   PMID:16344560   PMID:16417580   PMID:16442230   PMID:16764822  
PMID:17030191   PMID:17411337   PMID:18922795   PMID:18976727   PMID:19252133   PMID:19379695   PMID:19834535   PMID:20301774   PMID:20445134   PMID:20842693   PMID:21199191   PMID:21276947  
PMID:21901791   PMID:22037766   PMID:22589738   PMID:24312498   PMID:24366813   PMID:24431302   PMID:25416956   PMID:25763846   PMID:25910212   PMID:27036398   PMID:27184734   PMID:27378169  
PMID:28065597   PMID:29507755   PMID:30345727   PMID:30564977   PMID:30971775   PMID:31182584   PMID:32296183   PMID:32989298   PMID:33961781   PMID:34001134   PMID:34048709  


Genomics

Comparative Map Data
PRICKLE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381242,456,757 - 42,589,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1242,456,757 - 42,590,355 (-)EnsemblGRCh38hg38GRCh38
GRCh371242,850,559 - 42,983,548 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361241,139,341 - 41,269,745 (-)NCBINCBI36Build 36hg18NCBI36
Build 341241,139,340 - 41,269,745NCBI
Celera1241,653,996 - 41,785,497 (-)NCBICelera
Cytogenetic Map12q12NCBI
HuRef1239,878,936 - 40,010,599 (-)NCBIHuRef
CHM1_11242,818,791 - 42,950,331 (-)NCBICHM1_1
T2T-CHM13v2.01242,414,615 - 42,547,546 (-)NCBIT2T-CHM13v2.0
Prickle1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391593,396,992 - 93,494,147 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1593,396,995 - 93,493,772 (-)EnsemblGRCm39 Ensembl
GRCm381593,499,111 - 93,596,266 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1593,499,114 - 93,595,891 (-)EnsemblGRCm38mm10GRCm38
MGSCv371593,329,545 - 93,426,322 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361593,327,294 - 93,424,071 (-)NCBIMGSCv36mm8
Celera1595,647,051 - 95,744,081 (-)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1547.69NCBI
Prickle1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87126,518,587 - 126,614,581 (-)NCBIGRCr8
mRatBN7.27124,639,142 - 124,735,027 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7124,639,142 - 124,658,113 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7126,413,839 - 126,432,848 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07128,639,712 - 128,658,721 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07128,561,664 - 128,580,709 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07134,702,964 - 134,799,437 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7134,702,964 - 134,722,215 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07134,370,195 - 134,466,674 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47131,967,220 - 131,986,187 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17132,044,813 - 132,052,370 (-)NCBI
Celera7121,036,572 - 121,055,537 (-)NCBICelera
Cytogenetic Map7q35NCBI
Prickle1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555001,897,912 - 1,990,875 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555001,897,899 - 1,990,791 (-)NCBIChiLan1.0ChiLan1.0
PRICKLE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21051,569,777 - 51,704,514 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11251,566,578 - 51,699,232 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01246,127,673 - 46,262,333 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11247,100,352 - 47,126,116 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1247,100,393 - 47,126,102 (+)Ensemblpanpan1.1panPan2
PRICKLE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12711,327,086 - 11,437,799 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2711,426,647 - 11,437,303 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2734,864,577 - 34,975,269 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02711,522,959 - 11,634,418 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2711,559,081 - 11,634,108 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12711,336,611 - 11,448,200 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02711,366,003 - 11,477,284 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02735,111,079 - 35,222,648 (-)NCBIUU_Cfam_GSD_1.0
Prickle1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494571,894,685 - 71,999,671 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365121,163,615 - 1,270,255 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365121,165,159 - 1,270,138 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRICKLE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl573,707,050 - 73,826,430 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1573,707,026 - 73,826,529 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2576,446,397 - 76,452,034 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PRICKLE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11138,696,771 - 38,819,324 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1138,694,602 - 38,718,519 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037207,742,821 - 207,865,507 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prickle1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462481610,164,666 - 10,184,994 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462481610,087,866 - 10,185,004 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRICKLE1
575 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_153026.3(PRICKLE1):c.498C>G (p.Val166=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000528635] Chr12:42468716 [GRCh38]
Chr12:42862518 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000547364] Chr12:42460208 [GRCh38]
Chr12:42854010 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1600C>T (p.Arg534Trp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000544669] Chr12:42464434 [GRCh38]
Chr12:42858236 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001232568]|not provided [RCV000519106] Chr12:42464590 [GRCh38]
Chr12:42858392 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000023707]|not provided [RCV000188738]|not specified [RCV004018670] Chr12:42468783 [GRCh38]
Chr12:42862585 [GRCh37]
Chr12:12q12		 pathogenic|uncertain significance
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000023708] Chr12:42464620 [GRCh38]
Chr12:42858422 [GRCh37]
Chr12:12q12		 pathogenic
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000002373]|not provided [RCV000431708] Chr12:42469523 [GRCh38]
Chr12:42863325 [GRCh37]
Chr12:12q12		 pathogenic|likely pathogenic
NM_153026.3(PRICKLE1):c.1640-7C>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000544457] Chr12:42460672 [GRCh38]
Chr12:42854474 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1699GAG[1] (p.Glu568del) microsatellite not provided [RCV000728370] Chr12:42460601..42460603 [GRCh38]
Chr12:42854403..42854405 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000792650]|not provided [RCV000519556] Chr12:42465181 [GRCh38]
Chr12:42858983 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.139del (p.Leu47fs) deletion Epilepsy, progressive myoclonic, 1B [RCV000529906] Chr12:42470353 [GRCh38]
Chr12:42864155 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1242T>C (p.Tyr414=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001495057] Chr12:42464792 [GRCh38]
Chr12:42858594 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000551581] Chr12:42459832 [GRCh38]
Chr12:42853634 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh38/hg38 12q12-13.11(chr12:38590101-46551898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|See cases [RCV000052809] Chr12:38590101..46551898 [GRCh38]
Chr12:38983903..46945681 [GRCh37]
Chr12:37270170..45231948 [NCBI36]
Chr12:12q12-13.11		 pathogenic
NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000560200] Chr12:42464427 [GRCh38]
Chr12:42858229 [GRCh37]
Chr12:41144496 [NCBI36]
Chr12:12q12		 uncertain significance|not provided
NM_153026.3(PRICKLE1):c.1960G>A (p.Glu654Lys) single nucleotide variant not provided [RCV000658028] Chr12:42460345 [GRCh38]
Chr12:42854147 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001083947]|PRICKLE1-related disorder [RCV003905071]|not provided [RCV000082657]|not specified [RCV000186653] Chr12:42472403 [GRCh38]
Chr12:42866205 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001517089]|not provided [RCV000712846]|not specified [RCV000082658] Chr12:42460403 [GRCh38]
Chr12:42460403..42460404 [GRCh38]
Chr12:42854205 [GRCh37]
Chr12:42854205..42854206 [GRCh37]
Chr12:12q12		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000363709]|PRICKLE1-related disorder [RCV003915105]|not provided [RCV004703232]|not specified [RCV000082659] Chr12:42460001 [GRCh38]
Chr12:42853803 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001517090]|not provided [RCV000712845]|not specified [RCV000118050] Chr12:42460406 [GRCh38]
Chr12:42854208 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001085376]|PRICKLE1-related disorder [RCV003945056]|not provided [RCV000118051]|not specified [RCV000186656] Chr12:42460234 [GRCh38]
Chr12:42854036 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000333507]|not provided [RCV001573093]|not specified [RCV000118052] Chr12:42460069 [GRCh38]
Chr12:42853871 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) single nucleotide variant Childhood epilepsy with centrotemporal spikes [RCV000656031]|Epilepsy, progressive myoclonic, 1B [RCV000313184]|not provided [RCV004707980]|not specified [RCV000118053] Chr12:42469464 [GRCh38]
Chr12:42863266 [GRCh37]
Chr12:12q12		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000400769]|PRICKLE1-related disorder [RCV003925152]|not provided [RCV004707981]|not specified [RCV000118054] Chr12:42469460 [GRCh38]
Chr12:42863262 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000314185]|not provided [RCV004707982]|not specified [RCV000118055] Chr12:42468629 [GRCh38]
Chr12:42862431 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000228816]|not provided [RCV004706536]|not specified [RCV000118056] Chr12:42466225 [GRCh38]
Chr12:42860027 [GRCh37]
Chr12:12q12		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000263882]|PRICKLE1-related disorder [RCV003894987]|not provided [RCV001200583]|not specified [RCV000175984] Chr12:42472409 [GRCh38]
Chr12:42866211 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000356326]|not provided [RCV002510787]|not specified [RCV000186654] Chr12:42470315 [GRCh38]
Chr12:42864117 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646053]|not specified [RCV000127602] Chr12:42468743 [GRCh38]
Chr12:42862545 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_153026.3(PRICKLE1):c.775+20G>A single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002055758]|not specified [RCV000127605] Chr12:42466174 [GRCh38]
Chr12:42859976 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000469177]|not provided [RCV001705918]|not specified [RCV000180006] Chr12:42465080 [GRCh38]
Chr12:42858882 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000291960]|PRICKLE1-related disorder [RCV003945138]|not provided [RCV003326353]|not specified [RCV000127607] Chr12:42465080 [GRCh38]
Chr12:42858882 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000286507]|PRICKLE1-related disorder [RCV003965064]|not provided [RCV000723996]|not specified [RCV000186655] Chr12:42464573 [GRCh38]
Chr12:42858375 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.-49+19C>T single nucleotide variant not specified [RCV000127611] Chr12:42589446 [GRCh38]
Chr12:42983248 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.27G>A (p.Met9Ile) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001302507] Chr12:42472490 [GRCh38]
Chr12:42866292 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh38/hg38 12q12(chr12:41782886-42950380)x1 copy number loss See cases [RCV000133699] Chr12:41782886..42950380 [GRCh38]
Chr12:42176688..43344183 [GRCh37]
Chr12:40462955..41630450 [NCBI36]
Chr12:12q12		 uncertain significance
GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1 copy number loss See cases [RCV000138626] Chr12:40713887..46551900 [GRCh38]
Chr12:41107689..46945683 [GRCh37]
Chr12:39393956..45231950 [NCBI36]
Chr12:12q12-13.11		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000276079]|not provided [RCV000723814]|not specified [RCV000188730] Chr12:42460043 [GRCh38]
Chr12:42853845 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000157058]|PRICKLE1-related disorder [RCV004754322]|not provided [RCV000725886]|not specified [RCV003330514] Chr12:42465210 [GRCh38]
Chr12:42859012 [GRCh37]
Chr12:12q12		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000475800]|not provided [RCV000179021]|not specified [RCV004020136] Chr12:42468780 [GRCh38]
Chr12:42862582 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1248G>A (p.Thr416=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001471879]|not provided [RCV000724374]|not specified [RCV000192786] Chr12:42464786 [GRCh38]
Chr12:42858588 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000475911]|not provided [RCV000180007]|not specified [RCV004658978] Chr12:42464599 [GRCh38]
Chr12:42858401 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) single nucleotide variant Childhood epilepsy with centrotemporal spikes [RCV000656030]|Epilepsy, progressive myoclonic, 1B [RCV000525823]|Intellectual disability [RCV001252361]|not provided [RCV000712847]|not specified [RCV004020166] Chr12:42460089 [GRCh38]
Chr12:42853891 [GRCh37]
Chr12:12q12		 pathogenic|likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.2002T>A (p.Ser668Thr) single nucleotide variant not provided [RCV000180379] Chr12:42460303 [GRCh38]
Chr12:42854105 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000796891]|not provided [RCV000724229]|not specified [RCV000188749] Chr12:42460200 [GRCh38]
Chr12:42854002 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.8del (p.Leu3fs) deletion Epilepsy, progressive myoclonic, 1B [RCV001852493]|not specified [RCV000188752] Chr12:42472509 [GRCh38]
Chr12:42866311 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.425C>T (p.Ala142Val) single nucleotide variant not provided [RCV000188736] Chr12:42468789 [GRCh38]
Chr12:42862591 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.2(PRICKLE1):c.427T>G (p.Ser143Ala) single nucleotide variant not provided [RCV000188737] Chr12:42468787 [GRCh38]
Chr12:42862589 [GRCh37]
Chr12:12q12		 likely pathogenic
NM_153026.3(PRICKLE1):c.713T>C (p.Phe238Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001857643]|not provided [RCV000188739] Chr12:42466256 [GRCh38]
Chr12:42860058 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1198G>C (p.Glu400Gln) single nucleotide variant not provided [RCV000188742] Chr12:42464836 [GRCh38]
Chr12:42858638 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1516G>A (p.Ala506Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001857644]|not provided [RCV000188746] Chr12:42464518 [GRCh38]
Chr12:42858320 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2167G>A (p.Ala723Thr) single nucleotide variant not provided [RCV000188750] Chr12:42460138 [GRCh38]
Chr12:42853940 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.241A>C (p.Asn81His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001365836]|not specified [RCV004689664] Chr12:42470251 [GRCh38]
Chr12:42864053 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000525462]|PRICKLE1-related disorder [RCV003407689]|not provided [RCV000188726]|not specified [RCV004020281] Chr12:42468823 [GRCh38]
Chr12:42862625 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.1639+3A>G single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001435784]|not specified [RCV000188728] Chr12:42464392 [GRCh38]
Chr12:42858194 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001041255]|not specified [RCV000188729] Chr12:42460320 [GRCh38]
Chr12:42854122 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000536124]|not provided [RCV000188731]|not specified [RCV004020282] Chr12:42460036 [GRCh38]
Chr12:42853838 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000306724]|not provided [RCV000725954]|not specified [RCV000188732] Chr12:42459901 [GRCh38]
Chr12:42853703 [GRCh37]
Chr12:12q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646044]|not provided [RCV000188733]|not specified [RCV004020283] Chr12:42472492 [GRCh38]
Chr12:42866294 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.113C>T (p.Pro38Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001088362]|not provided [RCV000188734]|not specified [RCV004020284] Chr12:42472404 [GRCh38]
Chr12:42866206 [GRCh37]
Chr12:12q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646037]|not provided [RCV000188735] Chr12:42472385 [GRCh38]
Chr12:42866187 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.910A>G (p.Lys304Glu) single nucleotide variant not provided [RCV000188740] Chr12:42465124 [GRCh38]
Chr12:42858926 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000800273]|not provided [RCV000712844]|not specified [RCV000188741] Chr12:42464889 [GRCh38]
Chr12:42858691 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000698134]|not provided [RCV000731193]|not specified [RCV004020285] Chr12:42464812 [GRCh38]
Chr12:42858614 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000560400]|not provided [RCV000188744]|not specified [RCV004020286] Chr12:42464674 [GRCh38]
Chr12:42858476 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1505T>G (p.Leu502Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001338855]|not specified [RCV004020287] Chr12:42464529 [GRCh38]
Chr12:42858331 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000467028]|not provided [RCV000188747]|not specified [RCV004020288] Chr12:42464487 [GRCh38]
Chr12:42858289 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001852492]|not provided [RCV000188748] Chr12:42460629 [GRCh38]
Chr12:42854431 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001222774]|not provided [RCV000188751] Chr12:42460081 [GRCh38]
Chr12:42853883 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000375035]|not provided [RCV000188754] Chr12:42460417 [GRCh38]
Chr12:42854219 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000689074] Chr12:42460150 [GRCh38]
Chr12:42853952 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
Single allele deletion Epilepsy, progressive myoclonic, 1B [RCV000235073] Chr12:42476400..42505654 [GRCh38]
Chr12:42870202..42899456 [GRCh37]
Chr12:12q12		 likely pathogenic
NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000232246]|PRICKLE1-related disorder [RCV003939900]|not specified [RCV004020897] Chr12:42459989 [GRCh38]
Chr12:42853791 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000233986]|Intellectual disability [RCV001252360] Chr12:42472470 [GRCh38]
Chr12:42866272 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000545733] Chr12:42464787 [GRCh38]
Chr12:42858589 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.920G>A (p.Ser307Asn) single nucleotide variant not provided [RCV000371660] Chr12:42465114 [GRCh38]
Chr12:42858916 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2275G>A (p.Asp759Asn) single nucleotide variant not provided [RCV000382170] Chr12:42460030 [GRCh38]
Chr12:42853832 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000692133]|not provided [RCV000724353]|not specified [RCV000281320] Chr12:42464433 [GRCh38]
Chr12:42858235 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2288G>A (p.Cys763Tyr) single nucleotide variant not provided [RCV000358745] Chr12:42460017 [GRCh38]
Chr12:42853819 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001208102]|not provided [RCV000327055] Chr12:42460383 [GRCh38]
Chr12:42854185 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001850451]|not provided [RCV000408271]|not specified [RCV004021280] Chr12:42460278 [GRCh38]
Chr12:42854080 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001219523]|Intellectual disability [RCV001252362]|not provided [RCV000597357]|not specified [RCV004024783] Chr12:42466266 [GRCh38]
Chr12:42860068 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.776G>A (p.Gly259Asp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000553848] Chr12:42465258 [GRCh38]
Chr12:42859060 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-122CGCAGCCC[3] microsatellite Epilepsy, progressive myoclonic, 1B [RCV000267373] Chr12:42589522..42589523 [GRCh38]
Chr12:42983324..42983325 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.*1292T>C single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000268448] Chr12:42458517 [GRCh38]
Chr12:42852319 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*897G>A single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000268931] Chr12:42458912 [GRCh38]
Chr12:42852714 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*1047C>T single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000272379] Chr12:42458762 [GRCh38]
Chr12:42852564 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*527G>T single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000280817] Chr12:42459282 [GRCh38]
Chr12:42853084 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.-190C>G single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000284907] Chr12:42589606 [GRCh38]
Chr12:42983408 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.*261T>C single nucleotide variant not provided [RCV001715893] Chr12:42459548 [GRCh38]
Chr12:42853350 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.-238C>G single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000287623] Chr12:42589654 [GRCh38]
Chr12:42983456 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*594_*595del deletion Epilepsy, progressive myoclonic, 1B [RCV000293506] Chr12:42459214..42459215 [GRCh38]
Chr12:42853016..42853017 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-287C>G single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000295947] Chr12:42589703 [GRCh38]
Chr12:42983505 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*91T>C single nucleotide variant not provided [RCV001715696] Chr12:42459718 [GRCh38]
Chr12:42853520 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.*1283G>T single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000304797] Chr12:42458526 [GRCh38]
Chr12:42852328 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.-33G>A single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000316719] Chr12:42472549 [GRCh38]
Chr12:42866351 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1639+15G>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003525168] Chr12:42464380 [GRCh38]
Chr12:42858182 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.-142G>A single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000324742] Chr12:42589558 [GRCh38]
Chr12:42983360 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*1044C>T single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000327417] Chr12:42458765 [GRCh38]
Chr12:42852567 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-204G>A single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000328207] Chr12:42589620 [GRCh38]
Chr12:42983422 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*715G>T single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000333117] Chr12:42459094 [GRCh38]
Chr12:42852896 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*430C>G single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000335739] Chr12:42459379 [GRCh38]
Chr12:42853181 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1225G>A (p.Ala409Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001325936] Chr12:42464809 [GRCh38]
Chr12:42858611 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*233C>T single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000341703] Chr12:42459576 [GRCh38]
Chr12:42853378 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-246G>A single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000344996] Chr12:42589662 [GRCh38]
Chr12:42983464 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*552del deletion Epilepsy, progressive myoclonic, 1B [RCV000348402]|not provided [RCV004693107] Chr12:42459257 [GRCh38]
Chr12:42853059 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*1394G>A single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000353885] Chr12:42458415 [GRCh38]
Chr12:42458415..42458416 [GRCh38]
Chr12:42852217 [GRCh37]
Chr12:42852217..42852218 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.-40G>A single nucleotide variant not specified [RCV000444215] Chr12:42472556 [GRCh38]
Chr12:42866358 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.*1218G>A single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000359556] Chr12:42458591 [GRCh38]
Chr12:42852393 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*70G>A single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000366149] Chr12:42459739 [GRCh38]
Chr12:42853541 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2212A>G (p.Thr738Ala) single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000367059] Chr12:42460093 [GRCh38]
Chr12:42853895 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000371267]|not specified [RCV000440016] Chr12:42468779 [GRCh38]
Chr12:42862581 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153026.3(PRICKLE1):c.*546A>C single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000375291] Chr12:42459263 [GRCh38]
Chr12:42853065 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-181G>A single nucleotide variant not provided [RCV001648958] Chr12:42589597 [GRCh38]
Chr12:42983399 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_153026.3(PRICKLE1):c.*983C>A single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000382088] Chr12:42458826 [GRCh38]
Chr12:42852628 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-213G>C single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000384325] Chr12:42589629 [GRCh38]
Chr12:42983431 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*614G>A single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000387647] Chr12:42459195 [GRCh38]
Chr12:42852997 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-279_-277dup duplication Epilepsy, progressive myoclonic, 1B [RCV000387899] Chr12:42589692..42589693 [GRCh38]
Chr12:42983494..42983495 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1072T>G (p.Tyr358Asp) single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000397049] Chr12:42464962 [GRCh38]
Chr12:42858764 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*398G>T single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000397917] Chr12:42459411 [GRCh38]
Chr12:42853213 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000398777]|not provided [RCV003884458] Chr12:42466320 [GRCh38]
Chr12:42860122 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*142G>A single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000401110] Chr12:42459667 [GRCh38]
Chr12:42853469 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.*46G>C single nucleotide variant Progressive myoclonus epilepsy with ataxia [RCV000402161] Chr12:42459763 [GRCh38]
Chr12:42853565 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000531254]|not specified [RCV004024091] Chr12:42465030 [GRCh38]
Chr12:42858832 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002063221]|not specified [RCV000606395] Chr12:42460214 [GRCh38]
Chr12:42854016 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000555187]|not specified [RCV000609509] Chr12:42468734 [GRCh38]
Chr12:42862536 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000532850]|not provided [RCV001729637] Chr12:42465173 [GRCh38]
Chr12:42858975 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2043C>T (p.Ser681=) single nucleotide variant not provided [RCV000593751] Chr12:42460262 [GRCh38]
Chr12:42854064 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-14A>G single nucleotide variant not specified [RCV000603018] Chr12:42472530 [GRCh38]
Chr12:42866332 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1942C>G (p.Arg648Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001320316]|not provided [RCV000733911] Chr12:42460363 [GRCh38]
Chr12:42854165 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1318A>G (p.Ser440Gly) single nucleotide variant not provided [RCV000733425] Chr12:42464716 [GRCh38]
Chr12:42858518 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2359C>T (p.Arg787Trp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001055366]|Seizure [RCV000415096] Chr12:42459946 [GRCh38]
Chr12:42853748 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000559131] Chr12:42460650 [GRCh38]
Chr12:42854452 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:42890969-43667470)x3 copy number gain See cases [RCV000449456] Chr12:42890969..43667470 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:42953596-43480394)x1 copy number loss See cases [RCV000446164] Chr12:42953596..43480394 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1359C>T (p.Thr453=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002065014]|not specified [RCV000437900] Chr12:42464675 [GRCh38]
Chr12:42858477 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1640-11C>T single nucleotide variant not specified [RCV000424245] Chr12:42460676 [GRCh38]
Chr12:42854478 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.133-16A>C single nucleotide variant not specified [RCV000427642] Chr12:42470375 [GRCh38]
Chr12:42864177 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2205C>T (p.Ala735=) single nucleotide variant not specified [RCV000442072] Chr12:42460100 [GRCh38]
Chr12:42853902 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1629C>T (p.Ser543=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000862773]|PRICKLE1-related disorder [RCV003950364]|not specified [RCV000433467] Chr12:42464405 [GRCh38]
Chr12:42858207 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.819C>T (p.His273=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001399237]|not specified [RCV000418634] Chr12:42465215 [GRCh38]
Chr12:42859017 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000865603]|PRICKLE1-related disorder [RCV003972578]|not provided [RCV003392236]|not specified [RCV000442718] Chr12:42460658 [GRCh38]
Chr12:42854460 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_153026.3(PRICKLE1):c.2127T>C (p.Tyr709=) single nucleotide variant not specified [RCV000439208] Chr12:42460178 [GRCh38]
Chr12:42853980 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000863001]|PRICKLE1-related disorder [RCV003959874]|not specified [RCV000429382] Chr12:42472457 [GRCh38]
Chr12:42866259 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1023G>C (p.Arg341=) single nucleotide variant not specified [RCV000419866] Chr12:42465011 [GRCh38]
Chr12:42858813 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000862648]|not specified [RCV000429522] Chr12:42460112 [GRCh38]
Chr12:42853914 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000474118]|PRICKLE1-related disorder [RCV003959926]|not specified [RCV000436335] Chr12:42460241 [GRCh38]
Chr12:42854043 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1563G>A (p.Leu521=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002062676]|PRICKLE1-related disorder [RCV003897884]|not specified [RCV000436437] Chr12:42464471 [GRCh38]
Chr12:42858273 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.588+17C>A single nucleotide variant not specified [RCV000443582] Chr12:42468609 [GRCh38]
Chr12:42862411 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2037A>C (p.Arg679Ser) single nucleotide variant not provided [RCV000433520] Chr12:42460268 [GRCh38]
Chr12:42854070 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000476233]|not specified [RCV000422763] Chr12:42464858 [GRCh38]
Chr12:42858660 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_153026.3(PRICKLE1):c.775+19C>T single nucleotide variant not specified [RCV000444334] Chr12:42466175 [GRCh38]
Chr12:42859977 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.915G>A (p.Thr305=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001475005]|PRICKLE1-related disorder [RCV003897870]|not provided [RCV000864497]|not specified [RCV004022354] Chr12:42465119 [GRCh38]
Chr12:42858921 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1869G>A (p.Lys623=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000862564]|not provided [RCV004703975]|not specified [RCV000433882] Chr12:42460436 [GRCh38]
Chr12:42854238 [GRCh37]
Chr12:12q12		 benign|likely benign
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000462752]|not specified [RCV004022810] Chr12:42465042 [GRCh38]
Chr12:42858844 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1243A>G (p.Met415Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001055726]|not provided [RCV000479983]|not specified [RCV004023122] Chr12:42464791 [GRCh38]
Chr12:42858593 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000471128]|not provided [RCV000828448]|not specified [RCV004023027] Chr12:42459866 [GRCh38]
Chr12:42853668 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.101C>T (p.Ala34Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002526984]|not provided [RCV000480478] Chr12:42472416 [GRCh38]
Chr12:42866218 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000460208] Chr12:42468790 [GRCh38]
Chr12:42862592 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.444T>G (p.Gly148=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001505789] Chr12:42468770 [GRCh38]
Chr12:42862572 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000457443] Chr12:42464735 [GRCh38]
Chr12:42858537 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1413_1414delinsTC (p.Met471_Tyr472delinsIleHis) indel Epilepsy, progressive myoclonic, 1B [RCV000461836] Chr12:42464620..42464621 [GRCh38]
Chr12:42858422..42858423 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.775+9_775+18del deletion Epilepsy, progressive myoclonic, 1B [RCV001455006]|not specified [RCV000482680] Chr12:42466176..42466185 [GRCh38]
Chr12:42859978..42859987 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2330A>G (p.Tyr777Cys) single nucleotide variant not provided [RCV000482708] Chr12:42459975 [GRCh38]
Chr12:42853777 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) single nucleotide variant Childhood epilepsy with centrotemporal spikes [RCV000656032]|Epilepsy, progressive myoclonic, 1B [RCV001865431]|not provided [RCV000478636] Chr12:42472417 [GRCh38]
Chr12:42866219 [GRCh37]
Chr12:12q12		 pathogenic|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_153026.3(PRICKLE1):c.1497A>G (p.Glu499=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003522996]|not specified [RCV000603893] Chr12:42464537 [GRCh38]
Chr12:42858339 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1639+5G>A single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646040] Chr12:42464390 [GRCh38]
Chr12:42858192 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646043] Chr12:42460293 [GRCh38]
Chr12:42854095 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.276G>A (p.Glu92=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646047]|not specified [RCV004025694] Chr12:42469558 [GRCh38]
Chr12:42863360 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.249A>G (p.Val83=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646050] Chr12:42469585 [GRCh38]
Chr12:42863387 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1989T>C (p.Phe663=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000537172] Chr12:42460316 [GRCh38]
Chr12:42854118 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000533960] Chr12:42464413 [GRCh38]
Chr12:42858215 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1619T>C (p.Leu540Ser) single nucleotide variant not specified [RCV004319443] Chr12:42464415 [GRCh38]
Chr12:42858217 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001478505]|not specified [RCV000615129] Chr12:42460040 [GRCh38]
Chr12:42853842 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.588+10del deletion Epilepsy, progressive myoclonic, 1B [RCV001482985]|not specified [RCV000615834] Chr12:42468616 [GRCh38]
Chr12:42862418 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.247-10T>C single nucleotide variant not specified [RCV000615592] Chr12:42469597 [GRCh38]
Chr12:42863399 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000983557]|not provided [RCV003389818]|not specified [RCV000616193] Chr12:42460127 [GRCh38]
Chr12:42853929 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.808C>A (p.Gln270Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001225021]|not provided [RCV000594518] Chr12:42465226 [GRCh38]
Chr12:42859028 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.776-16A>G single nucleotide variant not specified [RCV000616744] Chr12:42465274 [GRCh38]
Chr12:42859076 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000538936]|not specified [RCV004024092] Chr12:42466344 [GRCh38]
Chr12:42860146 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.684G>A (p.Gln228=) single nucleotide variant not specified [RCV000608767] Chr12:42466285 [GRCh38]
Chr12:42860087 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.36G>A (p.Leu12=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003633521]|not specified [RCV000611411] Chr12:42472481 [GRCh38]
Chr12:42866283 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.246+7T>C single nucleotide variant not specified [RCV000614884] Chr12:42470239 [GRCh38]
Chr12:42864041 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000540316] Chr12:42468814 [GRCh38]
Chr12:42862616 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.588+18C>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002060644]|not specified [RCV000603696] Chr12:42468608 [GRCh38]
Chr12:42862410 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2310C>T (p.Ser770=) single nucleotide variant not specified [RCV000602158] Chr12:42459995 [GRCh38]
Chr12:42853797 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.776-14C>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002528726]|not specified [RCV000604521] Chr12:42465272 [GRCh38]
Chr12:42859074 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646038] Chr12:42459874 [GRCh38]
Chr12:42853676 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1648G>A (p.Val550Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646039] Chr12:42460657 [GRCh38]
Chr12:42854459 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646041]|not provided [RCV000712848] Chr12:42466301 [GRCh38]
Chr12:42860103 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646042] Chr12:42460130 [GRCh38]
Chr12:42853932 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646045] Chr12:42460216 [GRCh38]
Chr12:42854018 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.198G>A (p.Lys66=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646046] Chr12:42470294 [GRCh38]
Chr12:42864096 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1686T>G (p.Ser562=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646048] Chr12:42460619 [GRCh38]
Chr12:42854421 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646051] Chr12:42468791 [GRCh38]
Chr12:42862593 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646052] Chr12:42464750 [GRCh38]
Chr12:42858552 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000646055]|not provided [RCV001536679] Chr12:42460111 [GRCh38]
Chr12:42853913 [GRCh37]
Chr12:12q12		 likely benign
Single allele duplication not provided [RCV000678002] Chr12:40159287..43138820 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000687860] Chr12:42468766 [GRCh38]
Chr12:42862568 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000704334] Chr12:42466226 [GRCh38]
Chr12:42860028 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000689083]|not specified [RCV004026314] Chr12:42464622 [GRCh38]
Chr12:42858424 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2104C>T (p.Arg702Trp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001068620]|not specified [RCV004026866] Chr12:42460201 [GRCh38]
Chr12:42854003 [GRCh37]
Chr12:12q12		 uncertain significance
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000697300] Chr12:42459981 [GRCh38]
Chr12:42853783 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001861946]|not provided [RCV000709928] Chr12:42464641 [GRCh38]
Chr12:42858443 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000691257] Chr12:42468705 [GRCh38]
Chr12:42862507 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2272GAT[2] (p.Asp760del) microsatellite Epilepsy, progressive myoclonic, 1B [RCV000693995] Chr12:42460025..42460027 [GRCh38]
Chr12:42853827..42853829 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000691453] Chr12:42459925 [GRCh38]
Chr12:42853727 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000696604] Chr12:42464425 [GRCh38]
Chr12:42858227 [GRCh37]
Chr12:12q12		 uncertain significance
NC_000012.11:g.(?_42853591)_(42866338_?)dup duplication Epilepsy, progressive myoclonic, 1B [RCV000708302] Chr12:42459789..42472536 [GRCh38]
Chr12:42853591..42866338 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.72T>G (p.Asp24Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000694485] Chr12:42472445 [GRCh38]
Chr12:42866247 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1639+4C>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002534533]|not specified [RCV004026846] Chr12:42464391 [GRCh38]
Chr12:42858193 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000814211]|not specified [RCV004026858] Chr12:42466270 [GRCh38]
Chr12:42860072 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1438C>G (p.Leu480Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001316026]|Inborn genetic diseases [RCV002317627] Chr12:42464596 [GRCh38]
Chr12:42858398 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.857C>T (p.Ala286Val) single nucleotide variant not specified [RCV004026910] Chr12:42465177 [GRCh38]
Chr12:42858979 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1118G>A (p.Arg373Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001351432]|not specified [RCV004026912] Chr12:42464916 [GRCh38]
Chr12:42858718 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q12(chr12:42856396-42912131)x3 copy number gain not provided [RCV000737860] Chr12:42856396..42912131 [GRCh37]
Chr12:12q12		 benign
GRCh37/hg19 12q12(chr12:42865874-42899909)x3 copy number gain not provided [RCV000737861] Chr12:42865874..42899909 [GRCh37]
Chr12:12q12		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_153026.3(PRICKLE1):c.2021G>A (p.Arg674His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001591757] Chr12:42460284 [GRCh38]
Chr12:42854086 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-48-11001C>T single nucleotide variant not provided [RCV001534416] Chr12:42483565 [GRCh38]
Chr12:42877367 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.1640-234CAAAA[2] microsatellite not provided [RCV001535100] Chr12:42460885..42460889 [GRCh38]
Chr12:42854687..42854691 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2026C>T (p.Arg676Trp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001045044] Chr12:42460279 [GRCh38]
Chr12:42854081 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1440G>C (p.Leu480=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001414763] Chr12:42464594 [GRCh38]
Chr12:42858396 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.99C>T (p.Tyr33=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000866991] Chr12:42472418 [GRCh38]
Chr12:42866220 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2160G>A (p.Glu720=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000944446] Chr12:42460145 [GRCh38]
Chr12:42853947 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1449T>C (p.Ser483=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000865722] Chr12:42464585 [GRCh38]
Chr12:42858387 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2475C>G (p.Gly825=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002544404] Chr12:42459830 [GRCh38]
Chr12:42853632 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1330A>C (p.Ile444Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001034862] Chr12:42464704 [GRCh38]
Chr12:42858506 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.319G>C (p.Glu107Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001055081] Chr12:42469515 [GRCh38]
Chr12:42863317 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.977G>A (p.Arg326Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001061411] Chr12:42465057 [GRCh38]
Chr12:42858859 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1541C>T (p.Thr514Ile) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001041079] Chr12:42464493 [GRCh38]
Chr12:42858295 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.433G>A (p.Ala145Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001062128] Chr12:42468781 [GRCh38]
Chr12:42862583 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.214C>G (p.Leu72Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001041322] Chr12:42470278 [GRCh38]
Chr12:42864080 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1288C>T (p.Pro430Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001058606] Chr12:42464746 [GRCh38]
Chr12:42858548 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.805G>A (p.Gly269Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001046747]|not specified [RCV004031450] Chr12:42465229 [GRCh38]
Chr12:42859031 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.356G>C (p.Arg119Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001039630] Chr12:42469478 [GRCh38]
Chr12:42863280 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1522G>C (p.Gly508Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001054349] Chr12:42464512 [GRCh38]
Chr12:42858314 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.246+247C>T single nucleotide variant not provided [RCV000827521] Chr12:42469999 [GRCh38]
Chr12:42863801 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.108C>G (p.Val36=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001448405] Chr12:42472409 [GRCh38]
Chr12:42866211 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1608G>A (p.Ser536=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000867557] Chr12:42464426 [GRCh38]
Chr12:42858228 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2202C>T (p.Tyr734=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000866544]|not specified [RCV004027672] Chr12:42460103 [GRCh38]
Chr12:42853905 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1623A>T (p.Ala541=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001445772] Chr12:42464411 [GRCh38]
Chr12:42858213 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1629C>A (p.Ser543=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001409163] Chr12:42464405 [GRCh38]
Chr12:42858207 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1639+8_1639+20del deletion Epilepsy, progressive myoclonic, 1B [RCV001463540] Chr12:42464375..42464387 [GRCh38]
Chr12:42858177..42858189 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.132+122T>C single nucleotide variant not provided [RCV000827520] Chr12:42472263 [GRCh38]
Chr12:42866065 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.1682A>T (p.Tyr561Phe) single nucleotide variant Fetal akinesia deformation sequence 1 [RCV000855498] Chr12:42460623 [GRCh38]
Chr12:42854425 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000793113]|not specified [RCV004586926] Chr12:42470286 [GRCh38]
Chr12:42864088 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.775+257G>A single nucleotide variant not provided [RCV000828559] Chr12:42465937 [GRCh38]
Chr12:42859739 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.588+5A>C single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000800065] Chr12:42468621 [GRCh38]
Chr12:42862423 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.588+61A>T single nucleotide variant not provided [RCV000834987] Chr12:42468565 [GRCh38]
Chr12:42862367 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000798791] Chr12:42460534 [GRCh38]
Chr12:42854336 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-48-343C>T single nucleotide variant not provided [RCV000844195] Chr12:42472907 [GRCh38]
Chr12:42866709 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.-48-204G>A single nucleotide variant not provided [RCV000837089] Chr12:42472768 [GRCh38]
Chr12:42866570 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.-48-137G>T single nucleotide variant not provided [RCV000837090] Chr12:42472701 [GRCh38]
Chr12:42866503 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1639+168G>C single nucleotide variant not provided [RCV000826821] Chr12:42464227 [GRCh38]
Chr12:42858029 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.776-258C>G single nucleotide variant not provided [RCV000830739] Chr12:42465516 [GRCh38]
Chr12:42859318 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.133-75G>T single nucleotide variant not provided [RCV000833793] Chr12:42470434 [GRCh38]
Chr12:42864236 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.247-207A>T single nucleotide variant not provided [RCV000837187] Chr12:42469794 [GRCh38]
Chr12:42863596 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.247-248_247-247insG insertion not provided [RCV000827523] Chr12:42469834..42469835 [GRCh38]
Chr12:42863636..42863637 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.385-119A>C single nucleotide variant not provided [RCV000834264] Chr12:42468948 [GRCh38]
Chr12:42862750 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000805203]|not specified [RCV004028210] Chr12:42468769 [GRCh38]
Chr12:42862571 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000824200] Chr12:42465012 [GRCh38]
Chr12:42858814 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.246+230C>T single nucleotide variant not provided [RCV000837091] Chr12:42470016 [GRCh38]
Chr12:42863818 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1324C>T (p.His442Tyr) single nucleotide variant not provided [RCV000992700] Chr12:42464710 [GRCh38]
Chr12:42858512 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.775+35T>C single nucleotide variant not provided [RCV000829979] Chr12:42466159 [GRCh38]
Chr12:42859961 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.-48-293C>T single nucleotide variant not provided [RCV000828999] Chr12:42472857 [GRCh38]
Chr12:42866659 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.1640-256C>G single nucleotide variant not provided [RCV000830967] Chr12:42460921 [GRCh38]
Chr12:42854723 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000818913]|not specified [RCV004028996] Chr12:42465120 [GRCh38]
Chr12:42858922 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.588+123C>G single nucleotide variant not provided [RCV000826820] Chr12:42468503 [GRCh38]
Chr12:42862305 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.1639+60A>C single nucleotide variant not provided [RCV000832502] Chr12:42464335 [GRCh38]
Chr12:42858137 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV000814359] Chr12:42464779 [GRCh38]
Chr12:42858581 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.132+313G>A single nucleotide variant not provided [RCV000827803] Chr12:42472072 [GRCh38]
Chr12:42472072..42472073 [GRCh38]
Chr12:42865874 [GRCh37]
Chr12:42865874..42865875 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.479C>T (p.Thr160Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001067652] Chr12:42468735 [GRCh38]
Chr12:42862537 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2163C>G (p.Ile721Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001211885] Chr12:42460142 [GRCh38]
Chr12:42853944 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2156G>A (p.Arg719Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001219793] Chr12:42460149 [GRCh38]
Chr12:42853951 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.707G>T (p.Arg236Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001219832] Chr12:42466262 [GRCh38]
Chr12:42860064 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1298A>G (p.Asn433Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001222653] Chr12:42464736 [GRCh38]
Chr12:42858538 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2422C>A (p.Pro808Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001209118] Chr12:42459883 [GRCh38]
Chr12:42853685 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2126A>G (p.Tyr709Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001222586] Chr12:42460179 [GRCh38]
Chr12:42853981 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1425G>T (p.Gln475His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001203545] Chr12:42464609 [GRCh38]
Chr12:42858411 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1571_1573dup (p.Leu524dup) duplication Epilepsy, progressive myoclonic, 1B [RCV001227036] Chr12:42464460..42464461 [GRCh38]
Chr12:42858262..42858263 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.430C>T (p.Arg144Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001209687] Chr12:42468784 [GRCh38]
Chr12:42862586 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.473del (p.Cys158fs) deletion Epilepsy, progressive myoclonic, 1B [RCV001223145] Chr12:42468741 [GRCh38]
Chr12:42862543 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1327T>C (p.Trp443Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001241718] Chr12:42464707 [GRCh38]
Chr12:42858509 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.461C>T (p.Ser154Phe) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001214887] Chr12:42468753 [GRCh38]
Chr12:42862555 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.379_380insT (p.Glu127fs) insertion Epilepsy, progressive myoclonic, 1B [RCV001228841] Chr12:42469454..42469455 [GRCh38]
Chr12:42863256..42863257 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.205A>G (p.Ile69Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001201906] Chr12:42470287 [GRCh38]
Chr12:42864089 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.246+20G>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003105211] Chr12:42470226 [GRCh38]
Chr12:42864028 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.247-127C>T single nucleotide variant not provided [RCV001650801] Chr12:42469714 [GRCh38]
Chr12:42863516 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.133-289del deletion not provided [RCV001598882] Chr12:42470648 [GRCh38]
Chr12:42864450 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.132+180A>G single nucleotide variant not provided [RCV001557091] Chr12:42472205 [GRCh38]
Chr12:42866007 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.447G>A (p.Val149=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001424257] Chr12:42468767 [GRCh38]
Chr12:42862569 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1470C>A (p.Gly490=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001406079] Chr12:42464564 [GRCh38]
Chr12:42858366 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.133-5del deletion Epilepsy, progressive myoclonic, 1B [RCV001495797] Chr12:42470364 [GRCh38]
Chr12:42864166 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2249G>A (p.Arg750Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001244276] Chr12:42460056 [GRCh38]
Chr12:42853858 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.364A>G (p.Met122Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001244675] Chr12:42469470 [GRCh38]
Chr12:42863272 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1899T>G (p.Phe633Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001051790] Chr12:42460406 [GRCh38]
Chr12:42854208 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2141_2142delinsTT (p.Gln714Leu) indel Epilepsy, progressive myoclonic, 1B [RCV001209771] Chr12:42460163..42460164 [GRCh38]
Chr12:42853965..42853966 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.706C>T (p.Arg236Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001067985] Chr12:42466263 [GRCh38]
Chr12:42860065 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1165A>G (p.Ser389Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001207032] Chr12:42464869 [GRCh38]
Chr12:42858671 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1511A>G (p.His504Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001238564] Chr12:42464523 [GRCh38]
Chr12:42858325 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001228290]|not provided [RCV000992701]|not specified [RCV004659284] Chr12:42466343 [GRCh38]
Chr12:42860145 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.132+57T>C single nucleotide variant not provided [RCV001569838] Chr12:42472328 [GRCh38]
Chr12:42866130 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.-48-10897G>A single nucleotide variant not provided [RCV001732461] Chr12:42483461 [GRCh38]
Chr12:42877263 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1807T>C (p.Cys603Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001043949] Chr12:42460498 [GRCh38]
Chr12:42854300 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-48-10599C>A single nucleotide variant not provided [RCV001723053] Chr12:42483163 [GRCh38]
Chr12:42876965 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.775+216G>A single nucleotide variant not provided [RCV001593529] Chr12:42465978 [GRCh38]
Chr12:42859780 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q12(chr12:42871679-42898233)x1 copy number loss See cases [RCV001194588] Chr12:42871679..42898233 [GRCh37]
Chr12:12q12		 likely pathogenic
NM_153026.3(PRICKLE1):c.384+6C>A single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002554867]|not provided [RCV001093219] Chr12:42469444 [GRCh38]
Chr12:42863246 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-49+129G>C single nucleotide variant not provided [RCV001672177] Chr12:42589336 [GRCh38]
Chr12:42983138 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.133-284G>A single nucleotide variant not provided [RCV001678680] Chr12:42470643 [GRCh38]
Chr12:42864445 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.1108A>G (p.Thr370Ala) single nucleotide variant not provided [RCV001093218] Chr12:42464926 [GRCh38]
Chr12:42858728 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1060C>T (p.Pro354Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001235700] Chr12:42464974 [GRCh38]
Chr12:42858776 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1954A>G (p.Met652Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001214557] Chr12:42460351 [GRCh38]
Chr12:42854153 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1137T>A (p.Ser379Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001212538] Chr12:42464897 [GRCh38]
Chr12:42858699 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.898A>C (p.Ile300Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001234716] Chr12:42465136 [GRCh38]
Chr12:42858938 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1358C>A (p.Thr453Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001216223] Chr12:42464676 [GRCh38]
Chr12:42858478 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001042675]|not specified [RCV004031294] Chr12:42466368 [GRCh38]
Chr12:42860170 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1520C>T (p.Ser507Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001053327] Chr12:42464514 [GRCh38]
Chr12:42858316 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1088_1089delinsAT (p.Leu363His) indel Epilepsy, progressive myoclonic, 1B [RCV001061677] Chr12:42464945..42464946 [GRCh38]
Chr12:42858747..42858748 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2276A>G (p.Asp759Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001230327] Chr12:42460029 [GRCh38]
Chr12:42853831 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.320A>C (p.Glu107Ala) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001234082] Chr12:42469514 [GRCh38]
Chr12:42863316 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001202429]|not specified [RCV004033535] Chr12:42464466 [GRCh38]
Chr12:42858268 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.428C>T (p.Ser143Phe) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001041195] Chr12:42468786 [GRCh38]
Chr12:42862588 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2192A>G (p.Tyr731Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001035713] Chr12:42460113 [GRCh38]
Chr12:42853915 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1631A>G (p.Asn544Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001064418] Chr12:42464403 [GRCh38]
Chr12:42858205 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1342A>T (p.Met448Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001050893] Chr12:42464692 [GRCh38]
Chr12:42858494 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1826C>T (p.Pro609Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001038043] Chr12:42460479 [GRCh38]
Chr12:42854281 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2297C>T (p.Ser766Phe) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001203905] Chr12:42460008 [GRCh38]
Chr12:42853810 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1985_1996delinsG (p.Asn662fs) indel Epilepsy, progressive myoclonic, 1B [RCV001246060] Chr12:42460309..42460320 [GRCh38]
Chr12:42854111..42854122 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001262445] Chr12:42472389 [GRCh38]
Chr12:42866191 [GRCh37]
Chr12:12q12		 likely pathogenic|uncertain significance
NM_153026.3(PRICKLE1):c.-48-11193G>A single nucleotide variant Focal impaired awareness seizure [RCV001254957] Chr12:42483757 [GRCh38]
Chr12:42877559 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2081A>G (p.Lys694Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001313510] Chr12:42460224 [GRCh38]
Chr12:42854026 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.949dup (p.Ser317fs) duplication Epilepsy, progressive myoclonic, 1B [RCV001304116] Chr12:42465084..42465085 [GRCh38]
Chr12:42858886..42858887 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:40678619-43945453)x4 copy number gain not provided [RCV001259137] Chr12:40678619..43945453 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2266G>C (p.Gly756Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001305340] Chr12:42460039 [GRCh38]
Chr12:42853841 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2458A>C (p.Lys820Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001341849] Chr12:42459847 [GRCh38]
Chr12:42853649 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2311G>A (p.Asp771Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001341941] Chr12:42459994 [GRCh38]
Chr12:42853796 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1788G>T (p.Lys596Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001295687] Chr12:42460517 [GRCh38]
Chr12:42854319 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1240T>C (p.Tyr414His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001299030] Chr12:42464794 [GRCh38]
Chr12:42858596 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1443C>T (p.Gly481=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001299774]|not specified [RCV004036151] Chr12:42464591 [GRCh38]
Chr12:42858393 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_153026.3(PRICKLE1):c.2045G>A (p.Arg682His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001299220]|not provided [RCV001760345] Chr12:42460260 [GRCh38]
Chr12:42854062 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.250C>T (p.Arg84Trp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001303710] Chr12:42469584 [GRCh38]
Chr12:42863386 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1330A>G (p.Ile444Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001351420] Chr12:42464704 [GRCh38]
Chr12:42858506 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1595G>A (p.Ser532Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001294250]|not specified [RCV004035600] Chr12:42464439 [GRCh38]
Chr12:42858241 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2446A>G (p.Lys816Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001349322] Chr12:42459859 [GRCh38]
Chr12:42853661 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.352T>C (p.Ser118Pro) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001341460] Chr12:42469482 [GRCh38]
Chr12:42863284 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.864G>A (p.Leu288=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001392808] Chr12:42465170 [GRCh38]
Chr12:42858972 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1313G>C (p.Arg438Pro) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001362390] Chr12:42464721 [GRCh38]
Chr12:42858523 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.720T>C (p.Cys240=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001396551] Chr12:42466249 [GRCh38]
Chr12:42860051 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1173A>C (p.Glu391Asp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001295406] Chr12:42464861 [GRCh38]
Chr12:42858663 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.50A>C (p.Gln17Pro) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001350411] Chr12:42472467 [GRCh38]
Chr12:42866269 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12		 likely pathogenic
NM_153026.3(PRICKLE1):c.1944G>A (p.Arg648=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001433868] Chr12:42460361 [GRCh38]
Chr12:42854163 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.568C>T (p.Arg190Trp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001367506] Chr12:42468646 [GRCh38]
Chr12:42862448 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.656T>C (p.Leu219Pro) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001368814] Chr12:42466313 [GRCh38]
Chr12:42860115 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1103A>G (p.Asp368Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001350946] Chr12:42464931 [GRCh38]
Chr12:42858733 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1868A>G (p.Lys623Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001296532] Chr12:42460437 [GRCh38]
Chr12:42854239 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1869G>C (p.Lys623Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001323804] Chr12:42460436 [GRCh38]
Chr12:42854238 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.163G>A (p.Glu55Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001362790] Chr12:42470329 [GRCh38]
Chr12:42864131 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1919A>G (p.Asn640Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001299981] Chr12:42460386 [GRCh38]
Chr12:42854188 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.178G>A (p.Val60Ile) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001364870] Chr12:42470314 [GRCh38]
Chr12:42864116 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2255T>C (p.Leu752Pro) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001364972] Chr12:42460050 [GRCh38]
Chr12:42853852 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.3G>A (p.Met1Ile) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001371785] Chr12:42472514 [GRCh38]
Chr12:42866316 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.415G>A (p.Ala139Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001342354] Chr12:42468799 [GRCh38]
Chr12:42862601 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2122A>G (p.Asn708Asp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001365299] Chr12:42460183 [GRCh38]
Chr12:42853985 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.641A>C (p.Lys214Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001327508] Chr12:42466328 [GRCh38]
Chr12:42860130 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001368627]|not provided [RCV004692657] Chr12:42465022 [GRCh38]
Chr12:42858824 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2245A>C (p.Asn749His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001324250] Chr12:42460060 [GRCh38]
Chr12:42853862 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2425C>G (p.Gln809Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001345134] Chr12:42459880 [GRCh38]
Chr12:42853682 [GRCh37]
Chr12:12q12		 uncertain significance
NC_000012.11:g.(?_42853591)_(42866338_?)dup duplication Progressive myoclonus epilepsy with ataxia [RCV001305879] Chr12:42853591..42866338 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.689A>G (p.Tyr230Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001345215] Chr12:42466280 [GRCh38]
Chr12:42860082 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2225G>T (p.Gly742Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001347396] Chr12:42460080 [GRCh38]
Chr12:42853882 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1543C>T (p.Gln515Ter) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001347645] Chr12:42464491 [GRCh38]
Chr12:42858293 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001339214]|not provided [RCV004590339]|not specified [RCV003331122] Chr12:42460261 [GRCh38]
Chr12:42854063 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.287_288del (p.Glu96fs) microsatellite Epilepsy, progressive myoclonic, 1B [RCV001323532] Chr12:42469546..42469547 [GRCh38]
Chr12:42863348..42863349 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1406C>G (p.Ser469Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001362031] Chr12:42464628 [GRCh38]
Chr12:42858430 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.384+3G>A single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001359759] Chr12:42469447 [GRCh38]
Chr12:42863249 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1477A>C (p.Ser493Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001317266] Chr12:42464557 [GRCh38]
Chr12:42858359 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.251G>A (p.Arg84Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001347969] Chr12:42469583 [GRCh38]
Chr12:42863385 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1772G>C (p.Ser591Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001350619]|not specified [RCV004036629] Chr12:42460533 [GRCh38]
Chr12:42854335 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1681T>C (p.Tyr561His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001362463] Chr12:42460624 [GRCh38]
Chr12:42854426 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1208A>G (p.Glu403Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001325703] Chr12:42464826 [GRCh38]
Chr12:42858628 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2382T>C (p.Tyr794=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001394686] Chr12:42459923 [GRCh38]
Chr12:42853725 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.43G>A (p.Gly15Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001309523] Chr12:42472474 [GRCh38]
Chr12:42866276 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2107C>G (p.Leu703Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001296272] Chr12:42460198 [GRCh38]
Chr12:42854000 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.590T>C (p.Ile197Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001308144] Chr12:42466379 [GRCh38]
Chr12:42860181 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.586G>A (p.Glu196Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001350035] Chr12:42468628 [GRCh38]
Chr12:42862430 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.385-7T>C single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001496057] Chr12:42468836 [GRCh38]
Chr12:42862638 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1311T>C (p.Ile437=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001492591] Chr12:42464723 [GRCh38]
Chr12:42858525 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1533T>C (p.His511=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001506523]|not specified [RCV004037858] Chr12:42464501 [GRCh38]
Chr12:42858303 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1107C>T (p.Asp369=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001486920] Chr12:42464927 [GRCh38]
Chr12:42858729 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.202C>A (p.Arg68=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001453917] Chr12:42470290 [GRCh38]
Chr12:42864092 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.588+8A>G single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001501978] Chr12:42468618 [GRCh38]
Chr12:42862420 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1977C>T (p.Arg659=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001446089] Chr12:42460328 [GRCh38]
Chr12:42854130 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2472G>A (p.Lys824=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001410687] Chr12:42459833 [GRCh38]
Chr12:42853635 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2029A>C (p.Arg677=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001401647] Chr12:42460276 [GRCh38]
Chr12:42854078 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.804C>T (p.Asp268=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001442987] Chr12:42465230 [GRCh38]
Chr12:42859032 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1059G>A (p.Ser353=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001432238] Chr12:42464975 [GRCh38]
Chr12:42858777 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.-48-10607G>A single nucleotide variant not provided [RCV001653161] Chr12:42483171 [GRCh38]
Chr12:42876973 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.384+81G>C single nucleotide variant not provided [RCV001679846] Chr12:42469369 [GRCh38]
Chr12:42863171 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.939T>C (p.His313=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001476325] Chr12:42465095 [GRCh38]
Chr12:42858897 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.189C>T (p.Pro63=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001470066]|not specified [RCV004037099] Chr12:42470303 [GRCh38]
Chr12:42864105 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1770G>A (p.Arg590=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001497877] Chr12:42460535 [GRCh38]
Chr12:42854337 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.825G>A (p.Thr275=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001424573] Chr12:42465209 [GRCh38]
Chr12:42859011 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.933C>T (p.Asp311=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001455247] Chr12:42465101 [GRCh38]
Chr12:42858903 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.489G>A (p.Glu163=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001506096] Chr12:42468725 [GRCh38]
Chr12:42862527 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1341C>T (p.Asn447=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001503235] Chr12:42464693 [GRCh38]
Chr12:42858495 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2403A>T (p.Pro801=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001454044] Chr12:42459902 [GRCh38]
Chr12:42853704 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1953G>C (p.Pro651=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001440188] Chr12:42460352 [GRCh38]
Chr12:42854154 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2109G>C (p.Leu703=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001478221] Chr12:42460196 [GRCh38]
Chr12:42853998 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2487T>C (p.Ile829=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001404791] Chr12:42459818 [GRCh38]
Chr12:42853620 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1596T>C (p.Ser532=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001480972] Chr12:42464438 [GRCh38]
Chr12:42858240 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.372T>C (p.Ala124=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001402537] Chr12:42469462 [GRCh38]
Chr12:42863264 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1725G>T (p.Glu575Asp) single nucleotide variant See cases [RCV001784129] Chr12:42460580 [GRCh38]
Chr12:42854382 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.775+48G>A single nucleotide variant not provided [RCV001779807] Chr12:42466146 [GRCh38]
Chr12:42859948 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.910A>C (p.Lys304Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002034614]|not provided [RCV001784106] Chr12:42465124 [GRCh38]
Chr12:42858926 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.987C>G (p.Asp329Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002040122] Chr12:42465047 [GRCh38]
Chr12:42858849 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.986A>G (p.Asp329Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001964889] Chr12:42465048 [GRCh38]
Chr12:42858850 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1956G>T (p.Met652Ile) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001947721] Chr12:42460349 [GRCh38]
Chr12:42854151 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2360G>A (p.Arg787Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001870849] Chr12:42459945 [GRCh38]
Chr12:42853747 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1271A>G (p.Asp424Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001889555] Chr12:42464763 [GRCh38]
Chr12:42858565 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.604G>A (p.Glu202Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001947296] Chr12:42466365 [GRCh38]
Chr12:42860167 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.406G>A (p.Gly136Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001889844] Chr12:42468808 [GRCh38]
Chr12:42862610 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.773T>C (p.Ile258Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001910717] Chr12:42466196 [GRCh38]
Chr12:42859998 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.237T>G (p.His79Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001926764] Chr12:42470255 [GRCh38]
Chr12:42864057 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.499G>A (p.Asp167Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001912447] Chr12:42468715 [GRCh38]
Chr12:42862517 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_153026.3(PRICKLE1):c.446T>C (p.Val149Ala) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001987222] Chr12:42468768 [GRCh38]
Chr12:42862570 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1258C>T (p.Leu420Phe) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002040289] Chr12:42464776 [GRCh38]
Chr12:42858578 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1978G>A (p.Val660Ile) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001872201]|not specified [RCV004039685] Chr12:42460327 [GRCh38]
Chr12:42854129 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.124C>T (p.Pro42Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002044418] Chr12:42472393 [GRCh38]
Chr12:42866195 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.162G>T (p.Glu54Asp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002003512] Chr12:42470330 [GRCh38]
Chr12:42864132 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1194G>T (p.Glu398Asp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002004909] Chr12:42464840 [GRCh38]
Chr12:42858642 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:42953596-43480394) copy number loss not specified [RCV002052992] Chr12:42953596..43480394 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1124T>C (p.Leu375Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001891451] Chr12:42464910 [GRCh38]
Chr12:42858712 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2218G>T (p.Asp740Tyr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002001154] Chr12:42460087 [GRCh38]
Chr12:42853889 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1779G>T (p.Glu593Asp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001880288] Chr12:42460526 [GRCh38]
Chr12:42854328 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1942C>T (p.Arg648Trp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001991125]|not provided [RCV003992597] Chr12:42460363 [GRCh38]
Chr12:42854165 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1943G>A (p.Arg648Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002048382] Chr12:42460362 [GRCh38]
Chr12:42854164 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2413C>G (p.Leu805Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001921122] Chr12:42459892 [GRCh38]
Chr12:42853694 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1058C>T (p.Ser353Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001982346] Chr12:42464976 [GRCh38]
Chr12:42858778 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.820G>C (p.Ala274Pro) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001888239] Chr12:42465214 [GRCh38]
Chr12:42859016 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1646C>T (p.Ser549Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001886976] Chr12:42460659 [GRCh38]
Chr12:42854461 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.857C>A (p.Ala286Asp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001878504] Chr12:42465177 [GRCh38]
Chr12:42858979 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2195_2203del (p.Gly732_Tyr734del) deletion Epilepsy, progressive myoclonic, 1B [RCV002038431] Chr12:42460102..42460110 [GRCh38]
Chr12:42853904..42853912 [GRCh37]
Chr12:12q12		 uncertain significance
NC_000012.11:g.(?_42853611)_(42866318_?)dup duplication Epilepsy, progressive myoclonic, 1B [RCV001955859] Chr12:42853611..42866318 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1714_1715del (p.Glu572fs) deletion Epilepsy, progressive myoclonic, 1B [RCV001972992] Chr12:42460590..42460591 [GRCh38]
Chr12:42854392..42854393 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.439C>T (p.Pro147Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001898187] Chr12:42468775 [GRCh38]
Chr12:42862577 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.199C>A (p.His67Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001975769] Chr12:42470293 [GRCh38]
Chr12:42864095 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1952C>T (p.Pro651Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001864751] Chr12:42460353 [GRCh38]
Chr12:42854155 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1613A>C (p.Asp538Ala) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001974626] Chr12:42464421 [GRCh38]
Chr12:42858223 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1474G>A (p.Ala492Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001971969]|not specified [RCV004041982] Chr12:42464560 [GRCh38]
Chr12:42858362 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2024G>A (p.Arg675His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001955029] Chr12:42460281 [GRCh38]
Chr12:42854083 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.739T>C (p.Tyr247His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001881358] Chr12:42466230 [GRCh38]
Chr12:42860032 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1154C>T (p.Thr385Ile) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002029193] Chr12:42464880 [GRCh38]
Chr12:42858682 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2156G>T (p.Arg719Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002048095] Chr12:42460149 [GRCh38]
Chr12:42853951 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1021C>T (p.Arg341Trp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001960330] Chr12:42465013 [GRCh38]
Chr12:42858815 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.540C>T (p.Gly180=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001957856] Chr12:42468674 [GRCh38]
Chr12:42862476 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1219G>A (p.Glu407Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001907061] Chr12:42464815 [GRCh38]
Chr12:42858617 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1192G>C (p.Glu398Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001931612] Chr12:42464842 [GRCh38]
Chr12:42858644 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1640-14G>A single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001999009] Chr12:42460679 [GRCh38]
Chr12:42854481 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2459A>G (p.Lys820Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001880904] Chr12:42459846 [GRCh38]
Chr12:42853648 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.162G>A (p.Glu54=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001926008] Chr12:42470330 [GRCh38]
Chr12:42864132 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2423C>T (p.Pro808Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001926053] Chr12:42459882 [GRCh38]
Chr12:42853684 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.778G>A (p.Val260Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001935679] Chr12:42465256 [GRCh38]
Chr12:42859058 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.266T>A (p.Leu89Ter) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001883518] Chr12:42469568 [GRCh38]
Chr12:42863370 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2120A>G (p.Asp707Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001933766] Chr12:42460185 [GRCh38]
Chr12:42853987 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.997A>G (p.Ser333Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001995494] Chr12:42465037 [GRCh38]
Chr12:42858839 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2021G>C (p.Arg674Pro) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001906831] Chr12:42460284 [GRCh38]
Chr12:42854086 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1833G>C (p.Glu611Asp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001961261] Chr12:42460472 [GRCh38]
Chr12:42854274 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1688T>C (p.Leu563Pro) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001952930] Chr12:42460617 [GRCh38]
Chr12:42854419 [GRCh37]
Chr12:12q12		 uncertain significance
NC_000012.11:g.(?_42853611)_(42866318_?)del deletion Epilepsy, progressive myoclonic, 1B [RCV001958454] Chr12:42853611..42866318 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.431G>T (p.Arg144Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV001976109] Chr12:42468783 [GRCh38]
Chr12:42862585 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2465G>T (p.Gly822Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002029407] Chr12:42459840 [GRCh38]
Chr12:42853642 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.399A>C (p.Ile133=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002112309] Chr12:42468815 [GRCh38]
Chr12:42862617 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.588+11G>C single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002124303] Chr12:42468615 [GRCh38]
Chr12:42862417 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1908T>C (p.Asp636=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002167981] Chr12:42460397 [GRCh38]
Chr12:42854199 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.588+10dup duplication Epilepsy, progressive myoclonic, 1B [RCV002126844] Chr12:42468615..42468616 [GRCh38]
Chr12:42862417..42862418 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.384+17C>G single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002168532] Chr12:42469433 [GRCh38]
Chr12:42863235 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1971G>A (p.Arg657=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002205931] Chr12:42460334 [GRCh38]
Chr12:42854136 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1851A>T (p.Pro617=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002197415] Chr12:42460454 [GRCh38]
Chr12:42854256 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.88T>C (p.Leu30=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002095311] Chr12:42472429 [GRCh38]
Chr12:42866231 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.669G>A (p.Thr223=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002173621]|not specified [RCV004046415] Chr12:42466300 [GRCh38]
Chr12:42860102 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.702C>T (p.Asp234=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002192968] Chr12:42466267 [GRCh38]
Chr12:42860069 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.612A>C (p.Thr204=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002211910] Chr12:42466357 [GRCh38]
Chr12:42860159 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1640-20T>A single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002158411] Chr12:42460685 [GRCh38]
Chr12:42854487 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.522T>C (p.Asp174=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002138571] Chr12:42468692 [GRCh38]
Chr12:42862494 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.246+11A>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002119119] Chr12:42470235 [GRCh38]
Chr12:42864037 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1230T>C (p.Asp410=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002083107] Chr12:42464804 [GRCh38]
Chr12:42858606 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.385-20T>G single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002203576] Chr12:42468849 [GRCh38]
Chr12:42862651 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.936C>T (p.Val312=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002161741] Chr12:42465098 [GRCh38]
Chr12:42858900 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1600C>A (p.Arg534=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002102821] Chr12:42464434 [GRCh38]
Chr12:42858236 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2229G>A (p.Leu743=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002155705] Chr12:42460076 [GRCh38]
Chr12:42853878 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.589-9T>G single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002180415] Chr12:42466389 [GRCh38]
Chr12:42860191 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.133-7_133-5del deletion Epilepsy, progressive myoclonic, 1B [RCV002203213] Chr12:42470364..42470366 [GRCh38]
Chr12:42864166..42864168 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2388T>C (p.Asp796=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002158637] Chr12:42459917 [GRCh38]
Chr12:42853719 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1092A>G (p.Ser364=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002181759] Chr12:42464942 [GRCh38]
Chr12:42858744 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.132+18C>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003111845] Chr12:42472367 [GRCh38]
Chr12:42866169 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2420C>T (p.Thr807Ile) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003114738] Chr12:42459885 [GRCh38]
Chr12:42853687 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2218G>A (p.Asp740Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003116059] Chr12:42460087 [GRCh38]
Chr12:42853889 [GRCh37]
Chr12:12q12		 uncertain significance
NC_000012.11:g.(?_42862785)_(42864169_?)del deletion Epilepsy, progressive myoclonic, 1B [RCV003113753] Chr12:42862785..42864169 [GRCh37]
Chr12:12q12		 uncertain significance
NC_000012.11:g.(?_42853611)_(42854487_?)dup duplication Epilepsy, progressive myoclonic, 1B [RCV003113754] Chr12:42853611..42854487 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.-48-11145G>T single nucleotide variant not provided [RCV002275818] Chr12:42483709 [GRCh38]
Chr12:42877511 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2266G>A (p.Gly756Ser) single nucleotide variant not provided [RCV002261935] Chr12:42460039 [GRCh38]
Chr12:42853841 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.337A>G (p.Thr113Ala) single nucleotide variant not specified [RCV004047868] Chr12:42469497 [GRCh38]
Chr12:42863299 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1901_1902delinsGC (p.Ser634Cys) indel Epilepsy, progressive myoclonic, 1B [RCV002302937] Chr12:42460403..42460404 [GRCh38]
Chr12:42854205..42854206 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2145T>A (p.Asn715Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003101081]|not specified [RCV004061007] Chr12:42460160 [GRCh38]
Chr12:42853962 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1752C>A (p.Asn584Lys) single nucleotide variant not specified [RCV004061297] Chr12:42460553 [GRCh38]
Chr12:42854355 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1132C>T (p.Leu378=) single nucleotide variant not specified [RCV004048932] Chr12:42464902 [GRCh38]
Chr12:42858704 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1029A>C (p.Ala343=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003523132]|not specified [RCV004058725] Chr12:42465005 [GRCh38]
Chr12:42858807 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1888C>A (p.Gln630Lys) single nucleotide variant not specified [RCV004060191] Chr12:42460417 [GRCh38]
Chr12:42854219 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1977C>G (p.Arg659=) single nucleotide variant not specified [RCV004061620] Chr12:42460328 [GRCh38]
Chr12:42854130 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1213C>G (p.Pro405Ala) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002295498] Chr12:42464821 [GRCh38]
Chr12:42858623 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2183C>T (p.Ala728Val) single nucleotide variant not specified [RCV004061150] Chr12:42460122 [GRCh38]
Chr12:42853924 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1109C>A (p.Thr370Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002295740] Chr12:42464925 [GRCh38]
Chr12:42858727 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.531T>A (p.Ile177=) single nucleotide variant not specified [RCV004052396] Chr12:42468683 [GRCh38]
Chr12:42862485 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1031A>G (p.Asp344Gly) single nucleotide variant not specified [RCV004058923] Chr12:42465003 [GRCh38]
Chr12:42858805 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.132+3dup duplication Epilepsy, progressive myoclonic, 1B [RCV003012373] Chr12:42472381..42472382 [GRCh38]
Chr12:42866183..42866184 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1879A>C (p.Arg627=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003095448] Chr12:42460426 [GRCh38]
Chr12:42854228 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q12(chr12:39560669-43285298)x1 copy number loss not provided [RCV002475769] Chr12:39560669..43285298 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.220T>A (p.Tyr74Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002838334] Chr12:42470272 [GRCh38]
Chr12:42864074 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.588+6A>C single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003074842] Chr12:42468620 [GRCh38]
Chr12:42862422 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.469G>T (p.Val157Phe) single nucleotide variant not specified [RCV004164865] Chr12:42468745 [GRCh38]
Chr12:42862547 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2115C>T (p.Thr705=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002755063] Chr12:42460190 [GRCh38]
Chr12:42853992 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.718T>A (p.Cys240Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002904534] Chr12:42466251 [GRCh38]
Chr12:42860053 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1050C>T (p.Leu350=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003015846] Chr12:42464984 [GRCh38]
Chr12:42858786 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1304T>C (p.Met435Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002837500] Chr12:42464730 [GRCh38]
Chr12:42858532 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.55A>G (p.Ser19Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002842224] Chr12:42472462 [GRCh38]
Chr12:42866264 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1800A>G (p.Ser600=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003095757] Chr12:42460505 [GRCh38]
Chr12:42854307 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1346T>C (p.Val449Ala) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003013574] Chr12:42464688 [GRCh38]
Chr12:42858490 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2031A>T (p.Arg677Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002971437] Chr12:42460274 [GRCh38]
Chr12:42854076 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.274G>A (p.Glu92Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003016925] Chr12:42469560 [GRCh38]
Chr12:42863362 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.132+20del deletion Epilepsy, progressive myoclonic, 1B [RCV003034821] Chr12:42472365 [GRCh38]
Chr12:42866167 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.845C>T (p.Ala282Val) single nucleotide variant not provided [RCV002462436] Chr12:42465189 [GRCh38]
Chr12:42858991 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1640-9C>G single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003002755] Chr12:42460674 [GRCh38]
Chr12:42854476 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1884C>G (p.Pro628=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002928036] Chr12:42460421 [GRCh38]
Chr12:42854223 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1640G>A (p.Gly547Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002706147] Chr12:42460665 [GRCh38]
Chr12:42854467 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.611C>T (p.Thr204Ile) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003036729] Chr12:42466358 [GRCh38]
Chr12:42860160 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2116C>T (p.Pro706Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002795711] Chr12:42460189 [GRCh38]
Chr12:42853991 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1653T>C (p.Asp551=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002760811] Chr12:42460652 [GRCh38]
Chr12:42854454 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.10G>A (p.Glu4Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002976670]|not specified [RCV004065169] Chr12:42472507 [GRCh38]
Chr12:42866309 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.391T>C (p.Leu131=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003054102] Chr12:42468823 [GRCh38]
Chr12:42862625 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.156A>G (p.Leu52=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002621078] Chr12:42470336 [GRCh38]
Chr12:42864138 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1640-12C>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003038133] Chr12:42460677 [GRCh38]
Chr12:42854479 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1970G>A (p.Arg657Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002979739] Chr12:42460335 [GRCh38]
Chr12:42854137 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2263T>C (p.Tyr755His) single nucleotide variant not specified [RCV004122738] Chr12:42460042 [GRCh38]
Chr12:42853844 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.51G>A (p.Gln17=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002999795] Chr12:42472466 [GRCh38]
Chr12:42866268 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.154T>G (p.Leu52Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003039150] Chr12:42470338 [GRCh38]
Chr12:42864140 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.772A>G (p.Ile258Val) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002695423] Chr12:42466197 [GRCh38]
Chr12:42859999 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1276A>G (p.Ser426Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002885747] Chr12:42464758 [GRCh38]
Chr12:42858560 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1424A>G (p.Gln475Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002824217] Chr12:42464610 [GRCh38]
Chr12:42858412 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1362G>A (p.Glu454=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002848290] Chr12:42464672 [GRCh38]
Chr12:42858474 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1736A>G (p.Asn579Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002781504] Chr12:42460569 [GRCh38]
Chr12:42854371 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2050G>A (p.Asp684Asn) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002711377] Chr12:42460255 [GRCh38]
Chr12:42854057 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.458del (p.Pro153fs) deletion Epilepsy, progressive myoclonic, 1B [RCV002894807] Chr12:42468756 [GRCh38]
Chr12:42862558 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.758_759delinsAA (p.Thr253Lys) indel Epilepsy, progressive myoclonic, 1B [RCV003042320] Chr12:42466210..42466211 [GRCh38]
Chr12:42860012..42860013 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.341T>C (p.Ile114Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003024667] Chr12:42469493 [GRCh38]
Chr12:42863295 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1866C>G (p.Ser622=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003005937] Chr12:42460439 [GRCh38]
Chr12:42854241 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1036T>C (p.Cys346Arg) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003005020] Chr12:42464998 [GRCh38]
Chr12:42858800 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1608G>T (p.Ser536=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002917422] Chr12:42464426 [GRCh38]
Chr12:42858228 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.399A>G (p.Ile133Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003041056] Chr12:42468815 [GRCh38]
Chr12:42862617 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1230T>A (p.Asp410Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003056486] Chr12:42464804 [GRCh38]
Chr12:42858606 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2054A>G (p.Asn685Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003084318] Chr12:42460251 [GRCh38]
Chr12:42854053 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.764G>A (p.Gly255Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002593643]|not specified [RCV004065597] Chr12:42466205 [GRCh38]
Chr12:42860007 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.327G>A (p.Leu109=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003022368] Chr12:42469507 [GRCh38]
Chr12:42863309 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1345G>T (p.Val449Phe) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003082095] Chr12:42464689 [GRCh38]
Chr12:42858491 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1035G>A (p.Gln345=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003058864] Chr12:42464999 [GRCh38]
Chr12:42858801 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1767C>G (p.His589Gln) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002667548] Chr12:42460538 [GRCh38]
Chr12:42854340 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1160T>C (p.Phe387Ser) single nucleotide variant not specified [RCV004081722] Chr12:42464874 [GRCh38]
Chr12:42858676 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.740A>G (p.Tyr247Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002967379] Chr12:42466229 [GRCh38]
Chr12:42860031 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.991C>A (p.Arg331=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003091968] Chr12:42465043 [GRCh38]
Chr12:42858845 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1613A>G (p.Asp538Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002967133] Chr12:42464421 [GRCh38]
Chr12:42858223 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1404G>A (p.Gln468=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003091271] Chr12:42464630 [GRCh38]
Chr12:42858432 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1281C>T (p.Leu427=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002899613] Chr12:42464753 [GRCh38]
Chr12:42858555 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.746A>C (p.Glu249Ala) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003046063] Chr12:42466223 [GRCh38]
Chr12:42860025 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.202C>T (p.Arg68Trp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003063482] Chr12:42470290 [GRCh38]
Chr12:42864092 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.838T>G (p.Ser280Ala) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002806615] Chr12:42465196 [GRCh38]
Chr12:42858998 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2111A>T (p.Tyr704Phe) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002631578] Chr12:42460194 [GRCh38]
Chr12:42853996 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1299T>A (p.Asn433Lys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002834774] Chr12:42464735 [GRCh38]
Chr12:42858537 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.775+3A>G single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002810341] Chr12:42466191 [GRCh38]
Chr12:42859993 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2091C>G (p.Pro697=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002834150] Chr12:42460214 [GRCh38]
Chr12:42854016 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1032T>G (p.Asp344Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003087728] Chr12:42465002 [GRCh38]
Chr12:42858804 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1678T>C (p.Leu560=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002629462] Chr12:42460627 [GRCh38]
Chr12:42854429 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1302G>T (p.Glu434Asp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002815021] Chr12:42464732 [GRCh38]
Chr12:42858534 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1864T>C (p.Ser622Pro) single nucleotide variant not specified [RCV004133765] Chr12:42460441 [GRCh38]
Chr12:42854243 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2406A>G (p.Pro802=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003092462] Chr12:42459899 [GRCh38]
Chr12:42853701 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.817C>T (p.His273Tyr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003070498] Chr12:42465217 [GRCh38]
Chr12:42859019 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1824G>T (p.Leu608=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002943840] Chr12:42460481 [GRCh38]
Chr12:42854283 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1858A>G (p.Arg620Gly) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002611663] Chr12:42460447 [GRCh38]
Chr12:42854249 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1660A>C (p.Asn554His) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002635463]|not specified [RCV004066604] Chr12:42460645 [GRCh38]
Chr12:42854447 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1799C>T (p.Ser600Leu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV002610577] Chr12:42460506 [GRCh38]
Chr12:42854308 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1762C>G (p.Leu588Val) single nucleotide variant not specified [RCV004344544] Chr12:42460543 [GRCh38]
Chr12:42854345 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2056G>A (p.Ala686Thr) single nucleotide variant not specified [RCV004351267] Chr12:42460249 [GRCh38]
Chr12:42854051 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:42479450-42890970)x3 copy number gain not provided [RCV003484867] Chr12:42479450..42890970 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.14T>C (p.Met5Thr) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003486207] Chr12:42472503 [GRCh38]
Chr12:42866305 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2245A>T (p.Asn749Tyr) single nucleotide variant PRICKLE1-related disorder [RCV003414367] Chr12:42460060 [GRCh38]
Chr12:42853862 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1557T>C (p.Asp519=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003524759] Chr12:42464477 [GRCh38]
Chr12:42858279 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.373G>A (p.Val125Met) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003524903] Chr12:42469461 [GRCh38]
Chr12:42863263 [GRCh37]
Chr12:12q12		 benign
NM_153026.3(PRICKLE1):c.2053A>G (p.Asn685Asp) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003486208] Chr12:42460252 [GRCh38]
Chr12:42854054 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.774T>C (p.Ile258=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003524135] Chr12:42466195 [GRCh38]
Chr12:42859997 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1260C>T (p.Leu420=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003524187] Chr12:42464774 [GRCh38]
Chr12:42858576 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1875A>G (p.Gln625=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003524244] Chr12:42460430 [GRCh38]
Chr12:42854232 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.673C>T (p.Leu225=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003834928] Chr12:42466296 [GRCh38]
Chr12:42860098 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.588+17C>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003633873] Chr12:42468609 [GRCh38]
Chr12:42862411 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.132+20A>G single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003522374] Chr12:42472365 [GRCh38]
Chr12:42866167 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.234A>C (p.Pro78=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003633269] Chr12:42470258 [GRCh38]
Chr12:42864060 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2118C>T (p.Pro706=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003633285] Chr12:42460187 [GRCh38]
Chr12:42853989 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.174T>G (p.Pro58=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003522799] Chr12:42470318 [GRCh38]
Chr12:42864120 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2020C>T (p.Arg674Cys) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003633907] Chr12:42460285 [GRCh38]
Chr12:42854087 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2406A>T (p.Pro802=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003523637] Chr12:42459899 [GRCh38]
Chr12:42853701 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.191G>A (p.Gly64Glu) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003522892] Chr12:42470301 [GRCh38]
Chr12:42864103 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1095C>A (p.Gly365=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003633383] Chr12:42464939 [GRCh38]
Chr12:42858741 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.133-9C>G single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003524178] Chr12:42470368 [GRCh38]
Chr12:42864170 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.384+11C>T single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003633777] Chr12:42469439 [GRCh38]
Chr12:42863241 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.1323G>A (p.Glu441=) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003524015] Chr12:42464711 [GRCh38]
Chr12:42858513 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3 copy number gain not specified [RCV003987001] Chr12:38258635..48235837 [GRCh37]
Chr12:12q12-13.11		 pathogenic
GRCh37/hg19 12q12(chr12:42870778-42897139)x1 copy number loss not specified [RCV003986969] Chr12:42870778..42897139 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2401C>T (p.Pro801Ser) single nucleotide variant Epilepsy, progressive myoclonic, 1B [RCV003818295] Chr12:42459904 [GRCh38]
Chr12:42853706 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1372A>C (p.Asn458His) single nucleotide variant not specified [RCV004515019] Chr12:42464662 [GRCh38]
Chr12:42858464 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.136C>A (p.Gln46Lys) single nucleotide variant not specified [RCV004515018] Chr12:42470356 [GRCh38]
Chr12:42864158 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2303C>T (p.Ser768Phe) single nucleotide variant not specified [RCV004515020] Chr12:42460002 [GRCh38]
Chr12:42853804 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.539G>T (p.Gly180Val) single nucleotide variant not specified [RCV004515021] Chr12:42468675 [GRCh38]
Chr12:42862477 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1440G>A (p.Leu480=) single nucleotide variant PRICKLE1-related disorder [RCV003969370] Chr12:42464594 [GRCh38]
Chr12:42858396 [GRCh37]
Chr12:12q12		 likely benign
NM_153026.3(PRICKLE1):c.2287T>A (p.Cys763Ser) single nucleotide variant not provided [RCV003988655] Chr12:42460018 [GRCh38]
Chr12:42853820 [GRCh37]
Chr12:12q12		 not provided
NM_153026.3(PRICKLE1):c.889C>A (p.Gln297Lys) single nucleotide variant not specified [RCV004660163] Chr12:42465145 [GRCh38]
Chr12:42858947 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.2363C>T (p.Pro788Leu) single nucleotide variant not specified [RCV004648610] Chr12:42459942 [GRCh38]
Chr12:42853744 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1809T>A (p.Cys603Ter) single nucleotide variant not provided [RCV004759951]   uncertain significance
NM_153026.3(PRICKLE1):c.1639+903C>A single nucleotide variant not provided [RCV004699004] Chr12:42463492 [GRCh38]
Chr12:42857294 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.1639+462C>G single nucleotide variant not provided [RCV004699010] Chr12:42463933 [GRCh38]
Chr12:42857735 [GRCh37]
Chr12:12q12		 uncertain significance
NM_153026.3(PRICKLE1):c.820G>A (p.Ala274Thr) single nucleotide variant not specified [RCV004766594] Chr12:42465214 [GRCh38]
Chr12:42859016 [GRCh37]
Chr12:12q12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2620
Count of miRNA genes:851
Interacting mature miRNAs:979
Transcripts:ENST00000345127, ENST00000445766, ENST00000455697, ENST00000547113, ENST00000548696, ENST00000551050, ENST00000552108, ENST00000552200, ENST00000552240
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407069440GWAS718416_Hblood urea nitrogen measurement QTL GWAS718416 (human)2e-17blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)124247207242472073Human
407181538GWAS830514_Hfacial morphology measurement QTL GWAS830514 (human)0.0000002facial morphology measurement124248835142488352Human
407178089GWAS827065_Hmultiple sclerosis QTL GWAS827065 (human)0.000009multiple sclerosis124246040342460404Human
407182281GWAS831257_H1-docosahexaenoylglycerophosphocholine measurement QTL GWAS831257 (human)0.0000051-docosahexaenoylglycerophosphocholine measurement124255054842550549Human
406896627GWAS545603_HGraves disease QTL GWAS545603 (human)0.0000003Graves disease124247533842475339Human
406979473GWAS628449_Hinferior parietal cortex volume measurement QTL GWAS628449 (human)0.0000007parietal lobe morphology trait (VT:0000794)124257944142579442Human
407343442GWAS992418_Hurate measurement QTL GWAS992418 (human)2e-09urate measurementblood uric acid level (CMO:0000501)124245841542458416Human
406896694GWAS545670_Hautoimmune thyroid disease, Hashimoto's thyroiditis, Graves disease QTL GWAS545670 (human)0.000004autoimmune thyroid disease, Hashimoto's thyroiditis, Graves disease124247533842475339Human
407325328GWAS974304_HAlzheimer disease QTL GWAS974304 (human)8e-10Alzheimer disease124248532442485325Human
407023642GWAS672618_Hbody mass index QTL GWAS672618 (human)4e-09body mass indexbody mass index (BMI) (CMO:0000105)124255248342552484Human
406908793GWAS557769_HBMI-adjusted hip circumference QTL GWAS557769 (human)0.000006BMI-adjusted hip circumferencehip circumference (CMO:0000014)124257234142572342Human
407368637GWAS1017613_Hblood protein measurement QTL GWAS1017613 (human)4e-22blood protein measurementblood protein measurement (CMO:0000028)124247207242472073Human
407023641GWAS672617_Hbody mass index QTL GWAS672617 (human)5e-10body mass indexbody mass index (BMI) (CMO:0000105)124252691542526916Human
407201337GWAS850313_Happendicular lean mass QTL GWAS850313 (human)1e-12appendicular lean mass124247664242476643Human
407230073GWAS879049_Hbody height QTL GWAS879049 (human)2e-19body height (VT:0001253)body height (CMO:0000106)124248804642488047Human
407366904GWAS1015880_Hblood protein measurement QTL GWAS1015880 (human)7e-21blood protein measurementblood protein measurement (CMO:0000028)124247207242472073Human
407230074GWAS879050_Hbody height QTL GWAS879050 (human)8e-09body height (VT:0001253)body height (CMO:0000106)124255248342552484Human

Markers in Region
STS-N30055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,852,791 - 42,852,930UniSTSGRCh37
Build 361241,139,058 - 41,139,197RGDNCBI36
Celera1241,654,647 - 41,654,786RGD
Cytogenetic Map12q12UniSTS
HuRef1239,879,587 - 39,879,726UniSTS
GeneMap99-GB4 RH Map12213.47UniSTS
RH45246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,887,600 - 42,887,791UniSTSGRCh37
Build 361241,173,867 - 41,174,058RGDNCBI36
Celera1241,689,610 - 41,689,801RGD
Cytogenetic Map12q12UniSTS
HuRef1239,914,700 - 39,914,891UniSTS
GeneMap99-GB4 RH Map12215.9UniSTS
RH120662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,964,944 - 42,965,278UniSTSGRCh37
Build 361241,251,211 - 41,251,545RGDNCBI36
Celera1241,766,871 - 41,767,205RGD
Cytogenetic Map12q12UniSTS
HuRef1239,991,987 - 39,992,321UniSTS
TNG Radiation Hybrid Map1217365.0UniSTS
RH78229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,853,117 - 42,853,286UniSTSGRCh37
Build 361241,139,384 - 41,139,553RGDNCBI36
Celera1241,654,972 - 41,655,141RGD
Cytogenetic Map12q12UniSTS
HuRef1239,879,912 - 39,880,081UniSTS
GeneMap99-GB4 RH Map12213.47UniSTS
PRICKLE1__5577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,852,996 - 42,853,733UniSTSGRCh37
Build 361241,139,263 - 41,140,000RGDNCBI36
Celera1241,654,852 - 41,655,588RGD
HuRef1239,879,792 - 39,880,528UniSTS
D12S1130E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,859,036 - 42,859,165UniSTSGRCh37
Build 361241,145,303 - 41,145,432RGDNCBI36
Celera1241,660,891 - 41,661,020RGD
Cytogenetic Map12q12UniSTS
HuRef1239,885,831 - 39,885,960UniSTS
STS-AA010491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,978,392 - 42,978,638UniSTSGRCh37
Build 361241,264,659 - 41,264,905RGDNCBI36
Celera1241,780,317 - 41,780,563RGD
Cytogenetic Map12q12UniSTS
HuRef1240,005,419 - 40,005,665UniSTS
GeneMap99-GB4 RH Map12214.09UniSTS
RH65600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,871,831 - 42,871,960UniSTSGRCh37
Build 361241,158,098 - 41,158,227RGDNCBI36
Celera1241,673,836 - 41,673,965RGD
Cytogenetic Map12q12UniSTS
HuRef1239,898,555 - 39,898,684UniSTS
GeneMap99-GB4 RH Map12214.13UniSTS
WI-15796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,852,618 - 42,852,767UniSTSGRCh37
Build 361241,138,885 - 41,139,034RGDNCBI36
Celera1241,654,474 - 41,654,623RGD
Cytogenetic Map12q12UniSTS
HuRef1239,879,414 - 39,879,563UniSTS
GeneMap99-GB4 RH Map12197.09UniSTS
Whitehead-RH Map12293.7UniSTS
NCBI RH Map12362.9UniSTS
D12S1781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,853,189 - 42,853,341UniSTSGRCh37
Build 361241,139,456 - 41,139,608RGDNCBI36
Celera1241,655,044 - 41,655,196RGD
Cytogenetic Map12q12UniSTS
HuRef1239,879,984 - 39,880,136UniSTS
GeneMap99-GB4 RH Map12201.02UniSTS
Whitehead-RH Map12267.3UniSTS
Whitehead-YAC Contig Map12 UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
PRICKLE1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,866,219 - 42,866,366UniSTSGRCh37
Celera1241,668,073 - 41,668,220UniSTS
HuRef1239,893,016 - 39,893,163UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2397 2788 2246 4963 1710 2323 4 608 1910 449 2266 7218 6429 51 3727 1 851 1735 1606 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF399844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF543759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF543760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE858932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN390789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA321918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA413584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000345127   ⟹   ENSP00000345064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,456,757 - 42,589,746 (-)Ensembl
Ensembl Acc Id: ENST00000445766   ⟹   ENSP00000398947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,458,360 - 42,590,355 (-)Ensembl
Ensembl Acc Id: ENST00000455697   ⟹   ENSP00000401060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,458,372 - 42,484,341 (-)Ensembl
Ensembl Acc Id: ENST00000547113   ⟹   ENSP00000446699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,469,505 - 42,589,676 (-)Ensembl
Ensembl Acc Id: ENST00000548696   ⟹   ENSP00000448359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,458,951 - 42,483,993 (-)Ensembl
Ensembl Acc Id: ENST00000551050   ⟹   ENSP00000446970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,469,477 - 42,483,091 (-)Ensembl
Ensembl Acc Id: ENST00000552108   ⟹   ENSP00000447870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,468,723 - 42,589,592 (-)Ensembl
Ensembl Acc Id: ENST00000552200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,483,813 - 42,589,744 (-)Ensembl
Ensembl Acc Id: ENST00000552240   ⟹   ENSP00000449819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,459,280 - 42,483,995 (-)Ensembl
Ensembl Acc Id: ENST00000639414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,469,838 - 42,589,622 (-)Ensembl
Ensembl Acc Id: ENST00000639566   ⟹   ENSP00000492332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,459,265 - 42,484,306 (-)Ensembl
Ensembl Acc Id: ENST00000639588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,524,755 - 42,589,746 (-)Ensembl
Ensembl Acc Id: ENST00000639589   ⟹   ENSP00000491051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,456,763 - 42,484,444 (-)Ensembl
Ensembl Acc Id: ENST00000639958   ⟹   ENSP00000492644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,458,829 - 42,589,746 (-)Ensembl
Ensembl Acc Id: ENST00000640055   ⟹   ENSP00000492763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,458,825 - 42,484,298 (-)Ensembl
Ensembl Acc Id: ENST00000640132   ⟹   ENSP00000491228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,458,372 - 42,483,672 (-)Ensembl
Ensembl Acc Id: ENST00000640361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,463,622 - 42,465,080 (-)Ensembl
Ensembl Acc Id: ENST00000640646   ⟹   ENSP00000492483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,469,505 - 42,589,676 (-)Ensembl
Ensembl Acc Id: ENST00000640801   ⟹   ENSP00000491473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,469,450 - 42,589,283 (-)Ensembl
Ensembl Acc Id: ENST00000640840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,458,397 - 42,469,660 (-)Ensembl
Ensembl Acc Id: ENST00000640946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,465,137 - 42,466,391 (-)Ensembl
RefSeq Acc Id: NM_001144881   ⟹   NP_001138353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,483,615 (-)NCBI
GRCh371242,852,140 - 42,983,572 (-)ENTREZGENE
HuRef1239,878,936 - 40,010,599 (-)ENTREZGENE
CHM1_11242,818,791 - 42,844,172 (-)NCBI
T2T-CHM13v2.01242,414,615 - 42,441,435 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001144882   ⟹   NP_001138354
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,484,010 (-)NCBI
GRCh371242,852,140 - 42,983,572 (-)ENTREZGENE
HuRef1239,878,936 - 40,010,599 (-)ENTREZGENE
CHM1_11242,818,791 - 42,844,553 (-)NCBI
T2T-CHM13v2.01242,414,615 - 42,441,830 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001144883   ⟹   NP_001138355
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,484,010 (-)NCBI
GRCh371242,852,140 - 42,983,572 (-)ENTREZGENE
HuRef1239,878,936 - 40,010,599 (-)ENTREZGENE
CHM1_11242,818,791 - 42,844,553 (-)NCBI
T2T-CHM13v2.01242,414,615 - 42,441,830 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153026   ⟹   NP_694571
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,589,746 (-)NCBI
GRCh371242,852,140 - 42,983,572 (-)ENTREZGENE
Build 361241,139,341 - 41,269,745 (-)NCBI Archive
HuRef1239,878,936 - 40,010,599 (-)ENTREZGENE
CHM1_11242,818,791 - 42,950,331 (-)NCBI
T2T-CHM13v2.01242,414,615 - 42,547,546 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537946   ⟹   XP_011536248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,484,320 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537947   ⟹   XP_011536249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,589,746 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018838   ⟹   XP_016874327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,484,010 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018839   ⟹   XP_016874328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,483,615 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018840   ⟹   XP_016874329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,589,373 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428327   ⟹   XP_047284283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,527,883 (-)NCBI
RefSeq Acc Id: XM_047428328   ⟹   XP_047284284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,484,320 (-)NCBI
RefSeq Acc Id: XM_047428329   ⟹   XP_047284285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,484,320 (-)NCBI
RefSeq Acc Id: XM_047428330   ⟹   XP_047284286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,484,010 (-)NCBI
RefSeq Acc Id: XM_047428332   ⟹   XP_047284288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,483,615 (-)NCBI
RefSeq Acc Id: XM_047428333   ⟹   XP_047284289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,484,320 (-)NCBI
RefSeq Acc Id: XM_047428334   ⟹   XP_047284290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,484,320 (-)NCBI
RefSeq Acc Id: XM_047428335   ⟹   XP_047284291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,456,757 - 42,527,883 (-)NCBI
RefSeq Acc Id: XM_054371150   ⟹   XP_054227125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,485,698 (-)NCBI
RefSeq Acc Id: XM_054371151   ⟹   XP_054227126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,441,814 (-)NCBI
RefSeq Acc Id: XM_054371152   ⟹   XP_054227127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,547,546 (-)NCBI
RefSeq Acc Id: XM_054371153   ⟹   XP_054227128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,547,165 (-)NCBI
RefSeq Acc Id: XM_054371154   ⟹   XP_054227129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,441,435 (-)NCBI
RefSeq Acc Id: XM_054371155   ⟹   XP_054227130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,442,794 (-)NCBI
RefSeq Acc Id: XM_054371156   ⟹   XP_054227131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,442,794 (-)NCBI
RefSeq Acc Id: XM_054371157   ⟹   XP_054227132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,442,794 (-)NCBI
RefSeq Acc Id: XM_054371158   ⟹   XP_054227133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,442,122 (-)NCBI
RefSeq Acc Id: XM_054371159   ⟹   XP_054227134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,442,794 (-)NCBI
RefSeq Acc Id: XM_054371160   ⟹   XP_054227135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,485,698 (-)NCBI
RefSeq Acc Id: XM_054371161   ⟹   XP_054227136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,441,952 (-)NCBI
RefSeq Acc Id: XM_054371162   ⟹   XP_054227137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01242,414,615 - 42,440,892 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001138353 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138354 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138355 (Get FASTA)   NCBI Sequence Viewer  
  NP_694571 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536248 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536249 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874327 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874328 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874329 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284283 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284284 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284285 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284286 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284288 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284289 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284290 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284291 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227125 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227126 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227128 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227131 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227132 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227133 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227134 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227137 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI14940 (Get FASTA)   NCBI Sequence Viewer  
  AAI14941 (Get FASTA)   NCBI Sequence Viewer  
  AAQ03035 (Get FASTA)   NCBI Sequence Viewer  
  AAQ11824 (Get FASTA)   NCBI Sequence Viewer  
  AAQ11825 (Get FASTA)   NCBI Sequence Viewer  
  BAB71116 (Get FASTA)   NCBI Sequence Viewer  
  BAB71198 (Get FASTA)   NCBI Sequence Viewer  
  BAG53775 (Get FASTA)   NCBI Sequence Viewer  
  BAG53778 (Get FASTA)   NCBI Sequence Viewer  
  EAW57854 (Get FASTA)   NCBI Sequence Viewer  
  EAW57855 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000345064
  ENSP00000345064.3
  ENSP00000398947.2
  ENSP00000401060
  ENSP00000401060.1
  ENSP00000446699.1
  ENSP00000446970.1
  ENSP00000447870.2
  ENSP00000448359
  ENSP00000448359.1
  ENSP00000449819
  ENSP00000449819.1
  ENSP00000491051
  ENSP00000491051.1
  ENSP00000491228
  ENSP00000491228.1
  ENSP00000491473.1
  ENSP00000492332.1
  ENSP00000492483.1
  ENSP00000492644
  ENSP00000492644.1
  ENSP00000492763
  ENSP00000492763.1
GenBank Protein Q96MT3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_694571   ⟸   NM_153026
- UniProtKB: Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot),   Q96MT3 (UniProtKB/Swiss-Prot),   B3KVG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138355   ⟸   NM_001144883
- UniProtKB: Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot),   Q96MT3 (UniProtKB/Swiss-Prot),   B3KVG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138354   ⟸   NM_001144882
- UniProtKB: Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot),   Q96MT3 (UniProtKB/Swiss-Prot),   B3KVG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138353   ⟸   NM_001144881
- UniProtKB: Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot),   Q96MT3 (UniProtKB/Swiss-Prot),   B3KVG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536249   ⟸   XM_011537947
- Peptide Label: isoform X1
- UniProtKB: Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot),   Q96MT3 (UniProtKB/Swiss-Prot),   B3KVG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536248   ⟸   XM_011537946
- Peptide Label: isoform X1
- UniProtKB: Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot),   Q96MT3 (UniProtKB/Swiss-Prot),   B3KVG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874329   ⟸   XM_017018840
- Peptide Label: isoform X1
- UniProtKB: Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot),   Q96MT3 (UniProtKB/Swiss-Prot),   B3KVG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874327   ⟸   XM_017018838
- Peptide Label: isoform X1
- UniProtKB: Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot),   Q96MT3 (UniProtKB/Swiss-Prot),   B3KVG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874328   ⟸   XM_017018839
- Peptide Label: isoform X1
- UniProtKB: Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot),   Q96MT3 (UniProtKB/Swiss-Prot),   B3KVG3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000345064   ⟸   ENST00000345127
Ensembl Acc Id: ENSP00000492644   ⟸   ENST00000639958
Ensembl Acc Id: ENSP00000492332   ⟸   ENST00000639566
Ensembl Acc Id: ENSP00000491051   ⟸   ENST00000639589
Ensembl Acc Id: ENSP00000446699   ⟸   ENST00000547113
Ensembl Acc Id: ENSP00000448359   ⟸   ENST00000548696
Ensembl Acc Id: ENSP00000401060   ⟸   ENST00000455697
Ensembl Acc Id: ENSP00000491473   ⟸   ENST00000640801
Ensembl Acc Id: ENSP00000491228   ⟸   ENST00000640132
Ensembl Acc Id: ENSP00000492763   ⟸   ENST00000640055
Ensembl Acc Id: ENSP00000492483   ⟸   ENST00000640646
Ensembl Acc Id: ENSP00000398947   ⟸   ENST00000445766
Ensembl Acc Id: ENSP00000446970   ⟸   ENST00000551050
Ensembl Acc Id: ENSP00000449819   ⟸   ENST00000552240
Ensembl Acc Id: ENSP00000447870   ⟸   ENST00000552108
RefSeq Acc Id: XP_047284283   ⟸   XM_047428327
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284291   ⟸   XM_047428335
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284290   ⟸   XM_047428334
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284285   ⟸   XM_047428329
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284289   ⟸   XM_047428333
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284284   ⟸   XM_047428328
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284286   ⟸   XM_047428330
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284288   ⟸   XM_047428332
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227127   ⟸   XM_054371152
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227128   ⟸   XM_054371153
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227125   ⟸   XM_054371150
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227135   ⟸   XM_054371160
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227131   ⟸   XM_054371156
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227134   ⟸   XM_054371159
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227132   ⟸   XM_054371157
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227130   ⟸   XM_054371155
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227133   ⟸   XM_054371158
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227136   ⟸   XM_054371161
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227126   ⟸   XM_054371151
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227129   ⟸   XM_054371154
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227137   ⟸   XM_054371162
- Peptide Label: isoform X1
- UniProtKB: Q96MT3 (UniProtKB/Swiss-Prot),   Q71QF8 (UniProtKB/Swiss-Prot),   Q14C83 (UniProtKB/Swiss-Prot),   Q96N00 (UniProtKB/Swiss-Prot)
Protein Domains
LIM zinc-binding   PET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96MT3-F1-model_v2 AlphaFold Q96MT3 1-831 view protein structure

Promoters
RGD ID:6790379
Promoter ID:HG_KWN:15410
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_001144881,   NM_001144882,   NM_001144883
Position:
Human AssemblyChrPosition (strand)Source
Build 361241,163,481 - 41,164,387 (-)MPROMDB
RGD ID:6790392
Promoter ID:HG_KWN:15411
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:NM_153026,   UC009ZKA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361241,269,571 - 41,270,071 (-)MPROMDB
RGD ID:7223659
Promoter ID:EPDNEW_H17574
Type:initiation region
Name:PRICKLE1_1
Description:prickle planar cell polarity protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,589,746 - 42,589,806EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17019 AgrOrtholog
COSMIC PRICKLE1 COSMIC
Ensembl Genes ENSG00000139174 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000345127 ENTREZGENE
  ENST00000345127.9 UniProtKB/Swiss-Prot
  ENST00000445766.7 UniProtKB/Swiss-Prot
  ENST00000455697 ENTREZGENE
  ENST00000455697.6 UniProtKB/Swiss-Prot
  ENST00000547113.1 UniProtKB/TrEMBL
  ENST00000548696 ENTREZGENE
  ENST00000548696.6 UniProtKB/Swiss-Prot
  ENST00000551050.6 UniProtKB/TrEMBL
  ENST00000552108.6 UniProtKB/TrEMBL
  ENST00000552240 ENTREZGENE
  ENST00000552240.6 UniProtKB/Swiss-Prot
  ENST00000639566.1 UniProtKB/Swiss-Prot
  ENST00000639589 ENTREZGENE
  ENST00000639589.1 UniProtKB/Swiss-Prot
  ENST00000639958 ENTREZGENE
  ENST00000639958.1 UniProtKB/Swiss-Prot
  ENST00000640055 ENTREZGENE
  ENST00000640055.1 UniProtKB/Swiss-Prot
  ENST00000640132 ENTREZGENE
  ENST00000640132.1 UniProtKB/Swiss-Prot
  ENST00000640646.1 UniProtKB/TrEMBL
  ENST00000640801.1 UniProtKB/TrEMBL
Gene3D-CATH Cysteine Rich Protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139174 GTEx
HGNC ID HGNC:17019 ENTREZGENE
Human Proteome Map PRICKLE1 Human Proteome Map
InterPro LIM2_prickle UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM3_prickle UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PET_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PET_prickle UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pk/Esn/Tes UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:144165 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 144165 ENTREZGENE
OMIM 608500 OMIM
PANTHER LIM DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRICKLE-LIKE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134906946 PharmGKB
PROSITE LIM_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PPC7_HUMAN UniProtKB/TrEMBL
  B3KVG3 ENTREZGENE, UniProtKB/TrEMBL
  B3KVG6_HUMAN UniProtKB/TrEMBL
  F8VUG8_HUMAN UniProtKB/TrEMBL
  F8W1J1_HUMAN UniProtKB/TrEMBL
  F8W1Q8_HUMAN UniProtKB/TrEMBL
  PRIC1_HUMAN UniProtKB/Swiss-Prot
  Q14C83 ENTREZGENE
  Q71QF8 ENTREZGENE
  Q96MT3 ENTREZGENE
  Q96N00 ENTREZGENE
UniProt Secondary Q14C83 UniProtKB/Swiss-Prot
  Q71QF8 UniProtKB/Swiss-Prot
  Q96N00 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 PRICKLE1  prickle planar cell polarity protein 1    prickle homolog 1  Symbol and/or name change 5135510 APPROVED
2015-07-28 PRICKLE1  prickle homolog 1    prickle homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED