PRICKLE2-AS1 (PRICKLE2 antisense RNA 1) - Rat Genome Database

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Gene: PRICKLE2-AS1 (PRICKLE2 antisense RNA 1) Homo sapiens
Analyze
Symbol: PRICKLE2-AS1
Name: PRICKLE2 antisense RNA 1
RGD ID: 6770069
HGNC Page HGNC:40916
Description: ASSOCIATED WITH Generalized myoclonic seizure; genetic disease; Myoclonic Epilepsies; INTERACTS WITH dimethylselenide; fipronil; hydroxyl
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: RP11-129B22.1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38364,067,964 - 64,103,131 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl364,099,273 - 64,101,122 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl364,067,964 - 64,103,131 (+)EnsemblGRCh38hg38GRCh38
GRCh37364,053,640 - 64,088,807 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3p14.1NCBI
HuRef364,150,706 - 64,185,931 (+)NCBIHuRef
CHM1_1364,004,968 - 64,040,148 (+)NCBICHM1_1
T2T-CHM13v2.0364,111,575 - 64,146,741 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:19303062  


Genomics

Variants

.
Variants in PRICKLE2-AS1
247 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV000023710]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000679893]|not specified [RCV002247388] Chr3:64099773 [GRCh38]
Chr3:64085449 [GRCh37]
Chr3:3p14.1
pathogenic|uncertain significance
GRCh38/hg38 3p14.1(chr3:63822831-64433817)x1 copy number loss See cases [RCV000139356] Chr3:63822831..64433817 [GRCh38]
Chr3:63808507..64419493 [GRCh37]
Chr3:63783547..64394533 [NCBI36]
Chr3:3p14.1
uncertain significance
GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1 copy number loss See cases [RCV000139570] Chr3:57430538..64884522 [GRCh38]
Chr3:57416265..64870197 [GRCh37]
Chr3:57391305..64845237 [NCBI36]
Chr3:3p14.3-14.1
pathogenic
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1
pathogenic
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1
pathogenic
GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1 copy number loss See cases [RCV000050774] Chr3:61970847..68465832 [GRCh38]
Chr3:61956521..68514983 [GRCh37]
Chr3:61931561..68597673 [NCBI36]
Chr3:3p14.2-14.1
pathogenic
NM_198859.4(PRICKLE2):c.1707A>G (p.Arg569=) single nucleotide variant not provided [RCV000180388] Chr3:64099879 [GRCh38]
Chr3:64085555 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001519840]|not provided [RCV000180389] Chr3:64099624 [GRCh38]
Chr3:64085300 [GRCh37]
Chr3:3p14.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe) single nucleotide variant Inborn genetic diseases [RCV002515294]|Progressive myoclonic epilepsy type 5 [RCV001215085]|not provided [RCV000180390] Chr3:64099367 [GRCh38]
Chr3:64085043 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly) single nucleotide variant PRICKLE2-related condition [RCV003977483]|Progressive myoclonic epilepsy type 5 [RCV001078811]|not provided [RCV000180391] Chr3:64099395 [GRCh38]
Chr3:64085071 [GRCh37]
Chr3:3p14.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198859.4(PRICKLE2):c.*1605T>G single nucleotide variant Progressive myoclonic epilepsy [RCV000262084] Chr3:64097446 [GRCh38]
Chr3:64083122 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*2891C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000263457] Chr3:64096160 [GRCh38]
Chr3:64081836 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*4733G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000279392] Chr3:64094318 [GRCh38]
Chr3:64079994 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*690G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000279446] Chr3:64098361 [GRCh38]
Chr3:64084037 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4330A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000280389] Chr3:64094721 [GRCh38]
Chr3:64080397 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2455C>T (p.Pro819Ser) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV000525322] Chr3:64099131 [GRCh38]
Chr3:64084807 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3178G>C single nucleotide variant Progressive myoclonic epilepsy [RCV000266932] Chr3:64095873 [GRCh38]
Chr3:64081549 [GRCh37]
Chr3:3p14.1
likely benign|uncertain significance
NM_198859.4(PRICKLE2):c.*579del deletion Progressive myoclonic epilepsy [RCV000397673] Chr3:64098472 [GRCh38]
Chr3:64084148 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*469G>T single nucleotide variant Progressive myoclonic epilepsy [RCV000314524] Chr3:64098582 [GRCh38]
Chr3:64084258 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2772A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000333957] Chr3:64096279 [GRCh38]
Chr3:64081955 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*2909T>A single nucleotide variant Progressive myoclonic epilepsy [RCV000353581] Chr3:64096142 [GRCh38]
Chr3:64081818 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4455A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000374943] Chr3:64094596 [GRCh38]
Chr3:64080272 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1763G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000356675] Chr3:64097288 [GRCh38]
Chr3:64082964 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*1114C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000377942] Chr3:64097937 [GRCh38]
Chr3:64083613 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*695A>C single nucleotide variant Progressive myoclonic epilepsy [RCV000378669] Chr3:64098356 [GRCh38]
Chr3:64084032 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*3491A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000302600] Chr3:64095560 [GRCh38]
Chr3:64081236 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*4994C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000379157] Chr3:64094057 [GRCh38]
Chr3:64079733 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2567A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000288851] Chr3:64096484 [GRCh38]
Chr3:64082160 [GRCh37]
Chr3:3p14.1
benign|likely benign
NM_198859.4(PRICKLE2):c.*2288_*2296delinsT indel Progressive myoclonic epilepsy [RCV000403993] Chr3:64096755..64096763 [GRCh38]
Chr3:64082431..64082439 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2288C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000289826] Chr3:64096763 [GRCh38]
Chr3:64082439 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2269T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000340116] Chr3:64096782 [GRCh38]
Chr3:64082458 [GRCh37]
Chr3:3p14.1
likely benign|uncertain significance
NM_198859.4(PRICKLE2):c.*4238C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000405886] Chr3:64094813 [GRCh38]
Chr3:64080489 [GRCh37]
Chr3:3p14.1
benign|likely benign
NM_198859.4(PRICKLE2):c.*1991C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000305181] Chr3:64097060 [GRCh38]
Chr3:64082736 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3333T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000362009] Chr3:64095718 [GRCh38]
Chr3:64081394 [GRCh37]
Chr3:3p14.1
benign|likely benign
NM_198859.4(PRICKLE2):c.*1310C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000291649] Chr3:64097741 [GRCh38]
Chr3:64083417 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*2782C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000293051] Chr3:64096269 [GRCh38]
Chr3:64081945 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4797G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000324049] Chr3:64094254 [GRCh38]
Chr3:64079930 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*2447G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000343745] Chr3:64096604 [GRCh38]
Chr3:64082280 [GRCh37]
Chr3:3p14.1
benign|likely benign
NM_198859.4(PRICKLE2):c.*2797A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000387204] Chr3:64096254 [GRCh38]
Chr3:64081930 [GRCh37]
Chr3:3p14.1
benign|likely benign
NM_198859.4(PRICKLE2):c.*2724C>A single nucleotide variant Progressive myoclonic epilepsy [RCV000387885] Chr3:64096327 [GRCh38]
Chr3:64082003 [GRCh37]
Chr3:3p14.1
benign|likely benign
NM_198859.4(PRICKLE2):c.*1495T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000326703] Chr3:64097556 [GRCh38]
Chr3:64083232 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1568C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000367219] Chr3:64097483 [GRCh38]
Chr3:64083159 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3864T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000310632] Chr3:64095187 [GRCh38]
Chr3:64080863 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1277C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000327988] Chr3:64097774 [GRCh38]
Chr3:64083450 [GRCh37]
Chr3:3p14.1
benign|likely benign
NM_198859.4(PRICKLE2):c.*133G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000369227] Chr3:64098918 [GRCh38]
Chr3:64084594 [GRCh37]
Chr3:3p14.1
likely benign|uncertain significance
NM_198859.4(PRICKLE2):c.*580del deletion Progressive myoclonic epilepsy [RCV000349463] Chr3:64098471 [GRCh38]
Chr3:64084147 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1589G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000331328] Chr3:64097462 [GRCh38]
Chr3:64083138 [GRCh37]
Chr3:3p14.1
benign|likely benign
NM_198859.4(PRICKLE2):c.*3755A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000396119] Chr3:64095296 [GRCh38]
Chr3:64080972 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4057G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000396133] Chr3:64094994 [GRCh38]
Chr3:64080670 [GRCh37]
Chr3:3p14.1
likely benign|uncertain significance
NM_198859.4(PRICKLE2):c.1752T>A (p.Ser584=) single nucleotide variant Progressive myoclonic epilepsy [RCV000270834] Chr3:64099834 [GRCh38]
Chr3:64085510 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4861dup duplication Progressive myoclonic epilepsy [RCV000264229] Chr3:64094189..64094190 [GRCh38]
Chr3:64079865..64079866 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2356A>C (p.Asn786His) single nucleotide variant not provided [RCV000375213] Chr3:64099230 [GRCh38]
Chr3:64084906 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*995C>A single nucleotide variant Progressive myoclonic epilepsy [RCV000283106] Chr3:64098056 [GRCh38]
Chr3:64083732 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2980_*2981dup duplication Progressive myoclonic epilepsy [RCV000317375] Chr3:64096069..64096070 [GRCh38]
Chr3:64081745..64081746 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*792dup duplication Progressive myoclonic epilepsy [RCV000342743] Chr3:64098258..64098259 [GRCh38]
Chr3:64083934..64083935 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) single nucleotide variant Progressive myoclonic epilepsy [RCV001149606]|Progressive myoclonic epilepsy type 5 [RCV001086846]|not provided [RCV000358470] Chr3:64099483 [GRCh38]
Chr3:64085159 [GRCh37]
Chr3:3p14.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198859.4(PRICKLE2):c.*1560C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000277401] Chr3:64097491 [GRCh38]
Chr3:64083167 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2275A>C (p.Asn759His) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003640885]|not provided [RCV000328388] Chr3:64099311 [GRCh38]
Chr3:64084987 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4071A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000345793] Chr3:64094980 [GRCh38]
Chr3:64080656 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1476A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000381276] Chr3:64097575 [GRCh38]
Chr3:64083251 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3862C>A single nucleotide variant Progressive myoclonic epilepsy [RCV000365561] Chr3:64095189 [GRCh38]
Chr3:64080865 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2207C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000404256] Chr3:64096844 [GRCh38]
Chr3:64082520 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2856C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000318683] Chr3:64096195 [GRCh38]
Chr3:64081871 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4595T>A single nucleotide variant Progressive myoclonic epilepsy [RCV000334450] Chr3:64094456 [GRCh38]
Chr3:64080132 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*584del deletion Progressive myoclonic epilepsy [RCV000334557] Chr3:64098467 [GRCh38]
Chr3:64084143 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4257T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000349507] Chr3:64094794 [GRCh38]
Chr3:64080470 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*582A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000404748] Chr3:64098469 [GRCh38]
Chr3:64084145 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4109C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000295542] Chr3:64094942 [GRCh38]
Chr3:64080618 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1675G>A (p.Gly559Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV000307217] Chr3:64099911 [GRCh38]
Chr3:64085587 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1868G>C single nucleotide variant Progressive myoclonic epilepsy [RCV000297193] Chr3:64097183 [GRCh38]
Chr3:64082859 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*581dup duplication Progressive myoclonic epilepsy [RCV000299408] Chr3:64098469..64098470 [GRCh38]
Chr3:64084145..64084146 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1964C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000394841] Chr3:64097087 [GRCh38]
Chr3:64082763 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1970T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000360262] Chr3:64097081 [GRCh38]
Chr3:64082757 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4787T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000378575] Chr3:64094264 [GRCh38]
Chr3:64079940 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2126C>G (p.Ser709Cys) single nucleotide variant not provided [RCV000768292] Chr3:64099460 [GRCh38]
Chr3:64085136 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2065C>T (p.Arg689Cys) single nucleotide variant Inborn genetic diseases [RCV003277154] Chr3:64099521 [GRCh38]
Chr3:64085197 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1994T>C (p.Met665Thr) single nucleotide variant Inborn genetic diseases [RCV002536306]|Progressive myoclonic epilepsy type 5 [RCV000655347] Chr3:64099592 [GRCh38]
Chr3:64085268 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2220C>T (p.Ser740=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV000655354] Chr3:64099366 [GRCh38]
Chr3:64085042 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1937A>G (p.Asp646Gly) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001316711]|not provided [RCV000596576] Chr3:64099649 [GRCh38]
Chr3:64085325 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln) single nucleotide variant Inborn genetic diseases [RCV002533648]|Progressive myoclonic epilepsy type 5 [RCV000702156]|not provided [RCV003489826] Chr3:64099153 [GRCh38]
Chr3:64084829 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2290T>C single nucleotide variant Progressive myoclonic epilepsy [RCV001147939] Chr3:64096761 [GRCh38]
Chr3:64082437 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1044C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001148052] Chr3:64098007 [GRCh38]
Chr3:64083683 [GRCh37]
Chr3:3p14.1
benign
NM_198859.4(PRICKLE2):c.*943G>T single nucleotide variant Progressive myoclonic epilepsy [RCV001148053] Chr3:64098108 [GRCh38]
Chr3:64083784 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1682C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001149483] Chr3:64097369 [GRCh38]
Chr3:64083045 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1508A>G single nucleotide variant Progressive myoclonic epilepsy [RCV001147152] Chr3:64097543 [GRCh38]
Chr3:64083219 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1274C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001147154] Chr3:64097777 [GRCh38]
Chr3:64083453 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3755A>T single nucleotide variant Progressive myoclonic epilepsy [RCV001147848] Chr3:64095296 [GRCh38]
Chr3:64080972 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2037C>T (p.Asn679=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV000899243] Chr3:64099549 [GRCh38]
Chr3:64085225 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1896C>T (p.Asp632=) single nucleotide variant not provided [RCV000943201] Chr3:64099690 [GRCh38]
Chr3:64085366 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2283T>C (p.Phe761=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001472022] Chr3:64099303 [GRCh38]
Chr3:64084979 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2479A>C (p.Arg827=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV000981525] Chr3:64099107 [GRCh38]
Chr3:64084783 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1803C>T (p.Ser601=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV000930383] Chr3:64099783 [GRCh38]
Chr3:64085459 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1949C>T (p.Ala650Val) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001855720]|not provided [RCV000768293] Chr3:64099637 [GRCh38]
Chr3:64085313 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2160G>A (p.Arg720=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001402907] Chr3:64099426 [GRCh38]
Chr3:64085102 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2030A>G (p.Asp677Gly) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV000801046] Chr3:64099556 [GRCh38]
Chr3:64085232 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1292A>G single nucleotide variant Progressive myoclonic epilepsy [RCV001147153] Chr3:64097759 [GRCh38]
Chr3:64083435 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2102G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001149480] Chr3:64096949 [GRCh38]
Chr3:64082625 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3830T>C single nucleotide variant Progressive myoclonic epilepsy [RCV001147847] Chr3:64095221 [GRCh38]
Chr3:64080897 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3632T>C single nucleotide variant Progressive myoclonic epilepsy [RCV001149386] Chr3:64095419 [GRCh38]
Chr3:64081095 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3501C>G single nucleotide variant Progressive myoclonic epilepsy [RCV001149389] Chr3:64095550 [GRCh38]
Chr3:64081226 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4182T>C single nucleotide variant Progressive myoclonic epilepsy [RCV001146942] Chr3:64094869 [GRCh38]
Chr3:64080545 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3489G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001149391]|not provided [RCV003438681] Chr3:64095562 [GRCh38]
Chr3:64081238 [GRCh37]
Chr3:3p14.1
benign|likely benign
NM_198859.4(PRICKLE2):c.*3358T>A single nucleotide variant Progressive myoclonic epilepsy [RCV001149392] Chr3:64095693 [GRCh38]
Chr3:64081369 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2089C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001149481] Chr3:64096962 [GRCh38]
Chr3:64082638 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2391C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001147938] Chr3:64096660 [GRCh38]
Chr3:64082336 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4354C>G single nucleotide variant Progressive myoclonic epilepsy [RCV001146940] Chr3:64094697 [GRCh38]
Chr3:64080373 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2142G>A (p.Arg714=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001461720] Chr3:64099444 [GRCh38]
Chr3:64085120 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.*2666G>T single nucleotide variant Progressive myoclonic epilepsy [RCV001147050] Chr3:64096385 [GRCh38]
Chr3:64082061 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2282T>A (p.Phe761Tyr) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001228392] Chr3:64099304 [GRCh38]
Chr3:64084980 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3116C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001145093] Chr3:64095935 [GRCh38]
Chr3:64081611 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3065C>A single nucleotide variant Progressive myoclonic epilepsy [RCV001145094] Chr3:64095986 [GRCh38]
Chr3:64081662 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1621A>G single nucleotide variant Progressive myoclonic epilepsy [RCV001145196] Chr3:64097430 [GRCh38]
Chr3:64083106 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2123T>A (p.Ile708Asn) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001220610] Chr3:64099463 [GRCh38]
Chr3:64085139 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1959G>T (p.Lys653Asn) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001237844] Chr3:64099627 [GRCh38]
Chr3:64085303 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*65G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001149604] Chr3:64098986 [GRCh38]
Chr3:64084662 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*5092T>C single nucleotide variant Progressive myoclonic epilepsy [RCV001151093] Chr3:64093959 [GRCh38]
Chr3:64079635 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4877C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001151094] Chr3:64094174 [GRCh38]
Chr3:64079850 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2511G>A (p.Lys837=) single nucleotide variant not provided [RCV000926313] Chr3:64099075 [GRCh38]
Chr3:64084751 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001145304]|Progressive myoclonic epilepsy type 5 [RCV001240023] Chr3:64099494 [GRCh38]
Chr3:64085170 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2633G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001147051] Chr3:64096418 [GRCh38]
Chr3:64082094 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2009G>C (p.Arg670Pro) single nucleotide variant Inborn genetic diseases [RCV002561914]|Progressive myoclonic epilepsy type 5 [RCV001216945] Chr3:64099577 [GRCh38]
Chr3:64085253 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1876A>C (p.Asn626His) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001053898] Chr3:64099710 [GRCh38]
Chr3:64085386 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3540C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001149387] Chr3:64095511 [GRCh38]
Chr3:64081187 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1633G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001145195] Chr3:64097418 [GRCh38]
Chr3:64083094 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4769A>G single nucleotide variant Progressive myoclonic epilepsy [RCV001144987] Chr3:64094282 [GRCh38]
Chr3:64079958 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4531T>C single nucleotide variant Progressive myoclonic epilepsy [RCV001144988] Chr3:64094520 [GRCh38]
Chr3:64080196 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3343G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001145091] Chr3:64095708 [GRCh38]
Chr3:64081384 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3325G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001145092] Chr3:64095726 [GRCh38]
Chr3:64081402 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1647T>A single nucleotide variant Progressive myoclonic epilepsy [RCV001145194] Chr3:64097404 [GRCh38]
Chr3:64083080 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1679G>A (p.Gly560Asp) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001218613] Chr3:64099907 [GRCh38]
Chr3:64085583 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1942G>C (p.Gly648Arg) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001047476] Chr3:64099644 [GRCh38]
Chr3:64085320 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3504C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001149388] Chr3:64095547 [GRCh38]
Chr3:64081223 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3496G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001149390] Chr3:64095555 [GRCh38]
Chr3:64081231 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*560T>A single nucleotide variant Progressive myoclonic epilepsy [RCV001149602] Chr3:64098491 [GRCh38]
Chr3:64084167 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001149605]|Progressive myoclonic epilepsy type 5 [RCV003640955] Chr3:64099373 [GRCh38]
Chr3:64085049 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1691A>G (p.Gln564Arg) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001247653] Chr3:64099895 [GRCh38]
Chr3:64085571 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1861C>T (p.Leu621Phe) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001069689] Chr3:64099725 [GRCh38]
Chr3:64085401 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1837C>A (p.Gln613Lys) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001051468] Chr3:64099749 [GRCh38]
Chr3:64085425 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1157G>C single nucleotide variant Progressive myoclonic epilepsy [RCV001147155] Chr3:64097894 [GRCh38]
Chr3:64083570 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2188C>T (p.Arg730Trp) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001236432] Chr3:64099398 [GRCh38]
Chr3:64085074 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1667C>A (p.Ser556Tyr) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001046511] Chr3:64099919 [GRCh38]
Chr3:64085595 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4472G>T single nucleotide variant Progressive myoclonic epilepsy [RCV001144989] Chr3:64094579 [GRCh38]
Chr3:64080255 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*146C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001149603] Chr3:64098905 [GRCh38]
Chr3:64084581 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2100C>G (p.His700Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV001149607] Chr3:64099486 [GRCh38]
Chr3:64085162 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*4196T>G single nucleotide variant Progressive myoclonic epilepsy [RCV001146941] Chr3:64094855 [GRCh38]
Chr3:64080531 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*1982A>G single nucleotide variant Progressive myoclonic epilepsy [RCV001149482] Chr3:64097069 [GRCh38]
Chr3:64082745 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*3852C>A single nucleotide variant Progressive myoclonic epilepsy [RCV001147846] Chr3:64095199 [GRCh38]
Chr3:64080875 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.*3672C>G single nucleotide variant Progressive myoclonic epilepsy [RCV001147849] Chr3:64095379 [GRCh38]
Chr3:64081055 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.*2475G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001147937] Chr3:64096576 [GRCh38]
Chr3:64082252 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2207T>G (p.Met736Arg) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001203798] Chr3:64099379 [GRCh38]
Chr3:64085055 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2113C>T (p.Arg705Cys) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001317113] Chr3:64099473 [GRCh38]
Chr3:64085149 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2327C>G (p.Ser776Cys) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001340155] Chr3:64099259 [GRCh38]
Chr3:64084935 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1809G>C (p.Glu603Asp) single nucleotide variant Inborn genetic diseases [RCV002541888]|Progressive myoclonic epilepsy type 5 [RCV001299243] Chr3:64099777 [GRCh38]
Chr3:64085453 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2357A>G (p.Asn786Ser) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001363293] Chr3:64099229 [GRCh38]
Chr3:64084905 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2259G>A (p.Ser753=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001397109] Chr3:64099327 [GRCh38]
Chr3:64085003 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2129G>T (p.Arg710Leu) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001307291] Chr3:64099457 [GRCh38]
Chr3:64085133 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2393C>T (p.Pro798Leu) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001373358] Chr3:64099193 [GRCh38]
Chr3:64084869 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1858A>T (p.Asn620Tyr) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001366523] Chr3:64099728 [GRCh38]
Chr3:64085404 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2459A>G (p.Lys820Arg) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001305660] Chr3:64099127 [GRCh38]
Chr3:64084803 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1903T>C (p.Ser635Pro) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001351115] Chr3:64099683 [GRCh38]
Chr3:64085359 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1950G>A (p.Ala650=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001499461] Chr3:64099636 [GRCh38]
Chr3:64085312 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1959G>A (p.Lys653=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001405314] Chr3:64099627 [GRCh38]
Chr3:64085303 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2343T>C (p.Ser781=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001492802] Chr3:64099243 [GRCh38]
Chr3:64084919 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1944G>C (p.Gly648=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001483005] Chr3:64099642 [GRCh38]
Chr3:64085318 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2274G>A (p.Gln758=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001506065] Chr3:64099312 [GRCh38]
Chr3:64084988 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1737T>C (p.Ser579=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001439467] Chr3:64099849 [GRCh38]
Chr3:64085525 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2235C>T (p.Tyr745=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001393258] Chr3:64099351 [GRCh38]
Chr3:64085027 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1701A>G (p.Leu567=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001417932] Chr3:64099885 [GRCh38]
Chr3:64085561 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2127C>T (p.Ser709=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001448141] Chr3:64099459 [GRCh38]
Chr3:64085135 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2532T>C (p.Ser844=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001394023] Chr3:64099054 [GRCh38]
Chr3:64084730 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2184C>A (p.Arg728=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001451435] Chr3:64099402 [GRCh38]
Chr3:64085078 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2457C>G (p.Pro819=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001452704] Chr3:64099129 [GRCh38]
Chr3:64084805 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2493C>T (p.His831=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001491221] Chr3:64099093 [GRCh38]
Chr3:64084769 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2244C>T (p.Cys748=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001400389] Chr3:64099342 [GRCh38]
Chr3:64085018 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1687C>T (p.Arg563Cys) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002022008] Chr3:64099899 [GRCh38]
Chr3:64085575 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1862_1864del (p.Leu621del) deletion Progressive myoclonic epilepsy type 5 [RCV001874936] Chr3:64099722..64099724 [GRCh38]
Chr3:64085398..64085400 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2246C>T (p.Pro749Leu) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002034699]|myoclonic epilepsy [RCV001837285] Chr3:64099340 [GRCh38]
Chr3:64085016 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2237G>T (p.Gly746Val) single nucleotide variant Inborn genetic diseases [RCV003164222]|Progressive myoclonic epilepsy type 5 [RCV001873052] Chr3:64099349 [GRCh38]
Chr3:64085025 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1943G>T (p.Gly648Val) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002023420] Chr3:64099643 [GRCh38]
Chr3:64085319 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1975G>A (p.Gly659Ser) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002043865] Chr3:64099611 [GRCh38]
Chr3:64085287 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2234A>G (p.Tyr745Cys) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001892621] Chr3:64099352 [GRCh38]
Chr3:64085028 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2273A>C (p.Gln758Pro) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002043300] Chr3:64099313 [GRCh38]
Chr3:64084989 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1850T>C (p.Met617Thr) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001948027] Chr3:64099736 [GRCh38]
Chr3:64085412 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1976G>A (p.Gly659Asp) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002004320] Chr3:64099610 [GRCh38]
Chr3:64085286 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2187G>C (p.Gln729His) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002022895] Chr3:64099399 [GRCh38]
Chr3:64085075 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2174A>G (p.Gln725Arg) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001969443] Chr3:64099412 [GRCh38]
Chr3:64085088 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2473G>C (p.Gly825Arg) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002024715] Chr3:64099113 [GRCh38]
Chr3:64084789 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1679G>C (p.Gly560Ala) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002043639] Chr3:64099907 [GRCh38]
Chr3:64085583 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1706G>A (p.Arg569Gln) single nucleotide variant myoclonic epilepsy [RCV001784138] Chr3:64099880 [GRCh38]
Chr3:64085556 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2182C>T (p.Arg728Cys) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002039140] Chr3:64099404 [GRCh38]
Chr3:64085080 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2245C>G (p.Pro749Ala) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002027455] Chr3:64099341 [GRCh38]
Chr3:64085017 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1797C>A (p.Phe599Leu) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001877982] Chr3:64099789 [GRCh38]
Chr3:64085465 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2039G>C (p.Arg680Pro) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001978232] Chr3:64099547 [GRCh38]
Chr3:64085223 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2230C>A (p.Leu744Met) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001903810] Chr3:64099356 [GRCh38]
Chr3:64085032 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2088C>A (p.Asp696Glu) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002034357] Chr3:64099498 [GRCh38]
Chr3:64085174 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2114G>C (p.Arg705Pro) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002031224] Chr3:64099472 [GRCh38]
Chr3:64085148 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2080C>A (p.Arg694Ser) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002018532] Chr3:64099506 [GRCh38]
Chr3:64085182 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2358C>G (p.Asn786Lys) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001870097] Chr3:64099228 [GRCh38]
Chr3:64084904 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2426T>G (p.Leu809Arg) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001917532] Chr3:64099160 [GRCh38]
Chr3:64084836 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1977C>G (p.Gly659=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001938954] Chr3:64099609 [GRCh38]
Chr3:64085285 [GRCh37]
Chr3:3p14.1
likely benign|uncertain significance
NM_198859.4(PRICKLE2):c.1851G>A (p.Met617Ile) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001867682] Chr3:64099735 [GRCh38]
Chr3:64085411 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1804G>A (p.Ala602Thr) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001897874] Chr3:64099782 [GRCh38]
Chr3:64085458 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1688G>A (p.Arg563His) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV001906300] Chr3:64099898 [GRCh38]
Chr3:64085574 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1661-18C>T single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002075108] Chr3:64099943 [GRCh38]
Chr3:64085619 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2121C>G (p.Ala707=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002106382] Chr3:64099465 [GRCh38]
Chr3:64085141 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2445C>T (p.Ser815=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002072805] Chr3:64099141 [GRCh38]
Chr3:64084817 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2169T>C (p.Tyr723=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002149681] Chr3:64099417 [GRCh38]
Chr3:64085093 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2085C>T (p.Ser695=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002148432] Chr3:64099501 [GRCh38]
Chr3:64085177 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2175A>G (p.Gln725=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002146752] Chr3:64099411 [GRCh38]
Chr3:64085087 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1661-15T>C single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002216113] Chr3:64099940 [GRCh38]
Chr3:64085616 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1661-19C>T single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002108712] Chr3:64099944 [GRCh38]
Chr3:64085620 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1661-11C>G single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002199815] Chr3:64099936 [GRCh38]
Chr3:64085612 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2526C>T (p.Ile842=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002177987] Chr3:64099060 [GRCh38]
Chr3:64084736 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.1747G>A (p.Val583Met) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002299842] Chr3:64099839 [GRCh38]
Chr3:64085515 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1755G>C (p.Glu585Asp) single nucleotide variant Inborn genetic diseases [RCV002841817] Chr3:64099831 [GRCh38]
Chr3:64085507 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2266G>A (p.Ala756Thr) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003016040] Chr3:64099320 [GRCh38]
Chr3:64084996 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1785G>A (p.Ser595=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002948264] Chr3:64099801 [GRCh38]
Chr3:64085477 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2524A>G (p.Ile842Val) single nucleotide variant Inborn genetic diseases [RCV002864540] Chr3:64099062 [GRCh38]
Chr3:64084738 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2121C>T (p.Ala707=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002815460] Chr3:64099465 [GRCh38]
Chr3:64085141 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2222G>A (p.Arg741Gln) single nucleotide variant Inborn genetic diseases [RCV002975043]|Progressive myoclonic epilepsy type 5 [RCV002975044] Chr3:64099364 [GRCh38]
Chr3:64085040 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1798C>T (p.Arg600Trp) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002819234] Chr3:64099788 [GRCh38]
Chr3:64085464 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2381C>A (p.Pro794His) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002846336] Chr3:64099205 [GRCh38]
Chr3:64084881 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2119G>A (p.Ala707Thr) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003036831] Chr3:64099467 [GRCh38]
Chr3:64085143 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1676GTG[1] (p.Gly560del) microsatellite Progressive myoclonic epilepsy type 5 [RCV002829810] Chr3:64099905..64099907 [GRCh38]
Chr3:64085581..64085583 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2082C>T (p.Arg694=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002894682] Chr3:64099504 [GRCh38]
Chr3:64085180 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2114G>A (p.Arg705His) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002650421] Chr3:64099472 [GRCh38]
Chr3:64085148 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2486A>G (p.Gln829Arg) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002938881] Chr3:64099100 [GRCh38]
Chr3:64084776 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2020A>G (p.Thr674Ala) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002581416] Chr3:64099566 [GRCh38]
Chr3:64085242 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1681G>A (p.Ala561Thr) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002629458] Chr3:64099905 [GRCh38]
Chr3:64085581 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2517A>G (p.Lys839=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003064951] Chr3:64099069 [GRCh38]
Chr3:64084745 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2416A>C (p.Ser806Arg) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002607491] Chr3:64099170 [GRCh38]
Chr3:64084846 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2003G>A (p.Arg668His) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV002633300] Chr3:64099583 [GRCh38]
Chr3:64085259 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1855G>A (p.Gly619Arg) single nucleotide variant Inborn genetic diseases [RCV003209567] Chr3:64099731 [GRCh38]
Chr3:64085407 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2449G>A (p.Gly817Ser) single nucleotide variant Inborn genetic diseases [RCV003381150] Chr3:64099137 [GRCh38]
Chr3:64084813 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2222G>T (p.Arg741Leu) single nucleotide variant Inborn genetic diseases [RCV003383632] Chr3:64099364 [GRCh38]
Chr3:64085040 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1817G>A (p.Arg606His) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003527370] Chr3:64099769 [GRCh38]
Chr3:64085445 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2031C>T (p.Asp677=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003828009] Chr3:64099555 [GRCh38]
Chr3:64085231 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2441G>A (p.Ser814Asn) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003526867] Chr3:64099145 [GRCh38]
Chr3:64084821 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2406A>G (p.Arg802=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003527126] Chr3:64099180 [GRCh38]
Chr3:64084856 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2075G>A (p.Arg692His) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003527472] Chr3:64099511 [GRCh38]
Chr3:64085187 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2297G>T (p.Gly766Val) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003526255] Chr3:64099289 [GRCh38]
Chr3:64084965 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2434A>G (p.Lys812Glu) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003526360] Chr3:64099152 [GRCh38]
Chr3:64084828 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2164G>A (p.Asp722Asn) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003525738] Chr3:64099422 [GRCh38]
Chr3:64085098 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2173C>A (p.Gln725Lys) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003849801] Chr3:64099413 [GRCh38]
Chr3:64085089 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1907A>T (p.His636Leu) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003642195] Chr3:64099679 [GRCh38]
Chr3:64085355 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1914G>T (p.Arg638Ser) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003641493] Chr3:64099672 [GRCh38]
Chr3:64085348 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2442C>T (p.Ser814=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003641209] Chr3:64099144 [GRCh38]
Chr3:64084820 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2352T>G (p.Ser784=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003642339] Chr3:64099234 [GRCh38]
Chr3:64084910 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2342C>T (p.Ser781Phe) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003641173] Chr3:64099244 [GRCh38]
Chr3:64084920 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2126C>T (p.Ser709Phe) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003641121] Chr3:64099460 [GRCh38]
Chr3:64085136 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2375G>A (p.Gly792Glu) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003641341] Chr3:64099211 [GRCh38]
Chr3:64084887 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2183G>T (p.Arg728Leu) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003641615] Chr3:64099403 [GRCh38]
Chr3:64085079 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1722C>G (p.Asp574Glu) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003641715] Chr3:64099864 [GRCh38]
Chr3:64085540 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1963C>G (p.Pro655Ala) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003641704] Chr3:64099623 [GRCh38]
Chr3:64085299 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2296G>A (p.Gly766Arg) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003641960] Chr3:64099290 [GRCh38]
Chr3:64084966 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2172C>T (p.Asp724=) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003640683] Chr3:64099414 [GRCh38]
Chr3:64085090 [GRCh37]
Chr3:3p14.1
likely benign
NM_198859.4(PRICKLE2):c.2078C>G (p.Ser693Cys) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003641119] Chr3:64099508 [GRCh38]
Chr3:64085184 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.1832C>A (p.Ala611Asp) single nucleotide variant Progressive myoclonic epilepsy type 5 [RCV003861831] Chr3:64099754 [GRCh38]
Chr3:64085430 [GRCh37]
Chr3:3p14.1
uncertain significance
NM_198859.4(PRICKLE2):c.2204G>C (p.Ser735Thr) single nucleotide variant PRICKLE2-related condition [RCV003926939] Chr3:64099382 [GRCh38]
Chr3:64085058 [GRCh37]
Chr3:3p14.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:206
Count of miRNA genes:144
Interacting mature miRNAs:148
Transcripts:ENST00000460946, ENST00000476308, ENST00000482609
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH92155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37364,086,518 - 64,086,647UniSTSGRCh37
Build 36364,061,558 - 64,061,687RGDNCBI36
Celera364,103,287 - 64,103,416RGD
Cytogenetic Map3p14.1UniSTS
HuRef364,183,642 - 64,183,771UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium
Low 537 119 246 3 28 769 232 274 6 592 464 3 641 327
Below cutoff 1678 2027 1140 371 437 216 3127 1736 2648 144 577 834 156 561 2277

Sequence


RefSeq Acc Id: ENST00000460946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl364,099,778 - 64,101,114 (+)Ensembl
RefSeq Acc Id: ENST00000476308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl364,099,273 - 64,101,122 (+)Ensembl
RefSeq Acc Id: ENST00000482609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl364,067,964 - 64,103,131 (+)Ensembl
RefSeq Acc Id: NR_045697
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38364,067,964 - 64,103,131 (+)NCBI
GRCh37364,053,640 - 64,088,807 (+)NCBI
HuRef364,150,706 - 64,185,931 (+)NCBI
CHM1_1364,004,968 - 64,040,148 (+)NCBI
T2T-CHM13v2.0364,111,575 - 64,146,741 (+)NCBI
Sequence:
Promoters
RGD ID:15095607
Promoter ID:EPDNEWNC_H451
Type:initiation region
Name:PRICKLE2-AS1_1
Description:PRICKLE2 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:40916]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38364,099,234 - 64,099,294EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC PRICKLE2-AS1 COSMIC
Ensembl Genes ENSG00000241111 Ensembl, ENTREZGENE
  ENSG00000241572 Ensembl
Ensembl Transcript ENST00000482609 ENTREZGENE
GTEx ENSG00000241111 GTEx
  ENSG00000241572 GTEx
HGNC ID HGNC:40916 ENTREZGENE
Human Proteome Map PRICKLE2-AS1 Human Proteome Map
NCBI Gene PRICKLE2-AS1 ENTREZGENE
RNAcentral URS000075DA3C RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 PRICKLE2-AS1  PRICKLE2 antisense RNA 1  PRICKLE2-AS1  PRICKLE2 antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED