{{Rsnum
|rsid=113994152
|Gene=TSEN54
|Chromosome=17
|position=75522000
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=TSEN54
}}{{omim
|id=608755
|rsnum=113994152
|variant=0001
}}{{ClinVar
|rsid=113994152
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=73518081
|CHROM=17
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050160000000000016110100
|GENEINFO=TSEN54:283989
|GENE_NAME=TSEN54
|GENE_ID=283989
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.73518081G>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK9673; 608755.0001; 608755.0002
|CLNSIG=5
|CLNCUI=C1848526; C1856974; C1848526
|CLNDBN=Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 4
|Disease=Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 4
|CLNACC=RCV000002201.1; RCV000002202.1; RCV000002203.1
|Tags=PM;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK9673:C1848526:277470:2524; NBK9673:C1856974:225753:166063
|COMMON=0
}}