{{Rsnum
|rsid=74315304
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CTSK
|position=150799228
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CTSK
}}{{omim
|id=601105
|rsnum=74315304
|variant=0004
}}{{ClinVar
|rsid=74315304
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=150799228
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=CTSK:1513
|GENE_NAME=CTSK
|GENE_ID=1513
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.150799228G>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000396.3:c.830C>T; 601105.0004
|CLNSIG=5
|CLNCUI=C0238402
|CLNDBN=Pyknodysostosis
|Disease=Pyknodysostosis
|CLNACC=RCV000008934.1
|Tags=RV;PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0238402:265800:ORPHA763:89647000
}}