{{Rsnum
|rsid=137854542
|Chromosome=20
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CTSA
|position=45891990
|Gene_s=CTSA,NEURL2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=613111
|variant=0005
|rsnum=137854542
}}{{ClinVar
|rsid=137854542
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=44520629
|CHROM=20
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=CTSA:5476; NEURL2:140825
|GENE_NAME=CTSA; NEURL2
|GENE_ID=5476; 140825
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000020.10:g.44520629C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=613111.0005
|CLNSIG=5
|CLNCUI=C0268233
|CLNDBN=Combined deficiency of sialidase AND beta galactosidase
|Disease=Combined deficiency of sialidase AND beta galactosidase
|CLNACC=RCV000000410.1
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0268233:256540:351:35691006
}}