{{Rsnum
|rsid=80358195
|Chromosome=1
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=FUCA1
|position=23848671
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=FUCA1
}}{{omim
|id=612280
|rsnum=80358195
|variant=0003
}}{{ClinVar
|rsid=80358195
|Reversed=1
|FwdREF=G
|FwdALT=C,T
|REF=C
|ALT=A,G
|RSPOS=23848671
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000e05000002110100
|GENEINFO=FUCA1:2517
|GENE_NAME=FUCA1
|GENE_ID=2517
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.23848671C>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000147.4:c.1138G>T; 612280.0003
|CLNSIG=5
|CLNCUI=C0016788
|CLNDBN=Fucosidosis
|Disease=Fucosidosis
|CLNACC=RCV000000718.1
|Tags=RV;PM;S3D;NSM;NSN;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0016788:230000:ORPHA349:64716005
}}