{{Rsnum
|rsid=104894466
|Chromosome=14
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PABPN1
|position=23321504
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=BCL2L2-PABPN1,PABPN1
}}{{omim
|id=602279
|rsnum=104894466
|variant=0003
}}{{ClinVar
|rsid=104894466
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=23790713
|CHROM=14
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=PABPN1:8106; BCL2L2-PABPN1:100529063
|GENE_NAME=PABPN1; BCL2L2-PABPN1
|GENE_ID=8106; 100529063
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.23790713G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602279.0003
|CLNSIG=5
|CLNCUI=C0270952
|CLNDBN=Oculopharyngeal muscular dystrophy
|Disease=Oculopharyngeal muscular dystrophy
|CLNACC=RCV000007793.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1126:C0270952:164300:270:77097004
}}