{{Rsnum
|rsid=113994154
|Chromosome=17
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=TSEN54
|position=75522108
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TSEN54
}}{{omim
|id=608755
|rsnum=113994154
|variant=0004
}}{{ClinVar
|rsid=113994154
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=73518189
|CHROM=17
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=TSEN54:283989
|GENE_NAME=TSEN54
|GENE_ID=283989
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.73518189C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK9673; 608755.0004
|CLNSIG=5
|CLNCUI=C1856974; C1856974
|CLNDBN=Pontocerebellar hypoplasia type 4
|Disease=Pontocerebellar hypoplasia type 4
|CLNACC=RCV000002205.1
|Tags=PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK9673:C1856974:225753:166063
}}