{{Rsnum
|rsid=119482084
|Gene=SPTLC1
|Chromosome=9
|position=92038342
|Orientation=minus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=SPTLC1
}}{{omim
|id=605712
|rsnum=119482084
|variant=0004
}}{{ClinVar
|rsid=119482084
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=94800624
|CHROM=9
|GMAF=0.0009
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050160000000000016110100
|GENEINFO=SPTLC1:10558
|GENE_NAME=SPTLC1
|GENE_ID=10558
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.94800624C>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1390; 605712.0004
|CLNSIG=5
|CLNCUI=C0020071
|CLNDBN=Neuropathy hereditary sensory and autonomic type 1
|Disease=Neuropathy hereditary sensory and autonomic type 1
|CLNACC=RCV000005069.2
|Tags=RV;PM;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1390:C0020071:162400:36386
|COMMON=1
}}