{{Rsnum
|rsid=387906741
|Chromosome=14
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=DYNC1H1
|position=101985975
|Gene_s=DYNC1H1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=14
|CLNACC=RCV000022932.4
|CLNALLE=1
|CLNDBN=Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1834690:158600:363447
|CLNHGVS=NC_000014.8:g.102452312A>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600112.0004
|Disease=Spinal muscular atrophy
|FwdALT=C
|FwdREF=A
|REF=A
|RSPOS=102452312
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906741
|GENEINFO=DYNC1H1:1778
|GENE_ID=1778
|GENE_NAME=DYNC1H1
}}