{{Rsnum
|rsid=119482083
|Chromosome=9
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=SPTLC1
|position=92068095
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SPTLC1
}}{{omim
|id=605712
|rsnum=119482083
|variant=0003
}}{{ClinVar
|rsid=119482083
|Reversed=1
|FwdREF=T
|FwdALT=A
|REF=A
|ALT=T
|RSPOS=94830377
|CHROM=9
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=SPTLC1:10558
|GENE_NAME=SPTLC1
|GENE_ID=10558
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.94830377A>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1390; 605712.0003
|CLNSIG=5
|CLNCUI=C0020071
|CLNDBN=Neuropathy hereditary sensory and autonomic type 1
|Disease=Neuropathy hereditary sensory and autonomic type 1
|CLNACC=RCV000005068.2
|Tags=RV;PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1390:C0020071:162400:36386
}}