{{Rsnum
|rsid=281865563
|Chromosome=12
|position=42468783
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PRICKLE1
|Gene_s=PRICKLE1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=12
|CLNACC=RCV000023707.2
|CLNALLE=1
|CLNDBN=Progressive myoclonus epilepsy with ataxia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK9674:C2676254:612437:308
|CLNHGVS=NC_000012.11:g.42862585C>T
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK9674; 608500.0002
|Disease=Progressive myoclonus epilepsy with ataxia
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=42862585
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=281865563
|GENEINFO=PRICKLE1:144165
|GENE_ID=144165
|GENE_NAME=PRICKLE1
}}