{{Rsnum
|rsid=281865564
|Chromosome=12
|position=42464620
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PRICKLE1
|Gene_s=PRICKLE1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=12
|CLNACC=RCV000023708.2
|CLNALLE=1
|CLNDBN=Progressive myoclonus epilepsy with ataxia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK9674:C2676254:612437:308
|CLNHGVS=NC_000012.11:g.42858422A>G
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK9674; 608500.0003
|Disease=Progressive myoclonus epilepsy with ataxia
|FwdALT=C
|FwdREF=T
|REF=A
|RSPOS=42858422
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=281865564
|GENEINFO=PRICKLE1:144165
|GENE_ID=144165
|GENE_NAME=PRICKLE1
}}