{{Rsnum
|rsid=113994140
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PRICKLE1
|position=42469523
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PRICKLE1
}}{{omim
|id=608500
|rsnum=113994140
|variant=0001
}}{{ClinVar
|rsid=113994140
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=42863325
|CHROM=12
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=PRICKLE1:144165
|GENE_NAME=PRICKLE1
|GENE_ID=144165
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.42863325C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK9674; 608500.0001
|CLNSIG=5
|CLNCUI=C2676254; C2676254
|CLNDBN=Progressive myoclonus epilepsy with ataxia
|Disease=Progressive myoclonus epilepsy with ataxia
|CLNACC=RCV000002373.1
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK9674:C2676254:612437:308
}}