{{Rsnum
|rsid=121434513
|Chromosome=2
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PNKD
|position=218271410
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=AAMP,PNKD
}}{{omim
|id=609023
|rsnum=121434513
|variant=0003
}}{{ClinVar
|rsid=121434513
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=219136133
|CHROM=2
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=AAMP:14; PNKD:25953
|GENE_NAME=AAMP; PNKD
|GENE_ID=14; 25953
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.219136133G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=609023.0003
|CLNSIG=5
|CLNCUI=C1869117
|CLNDBN=Paroxysmal choreoathetosis
|Disease=Paroxysmal choreoathetosis
|CLNACC=RCV000001971.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1221:C1869117:118800:49949003
}}