{{Rsnum
|rsid=387906889
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=AFG3L2
|position=12340334
|Gene_s=AFG3L2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Chromosome=18
}}{{ClinVar
|ALT=C
|CHROM=18
|CLNACC=RCV000023380.1
|CLNALLE=1
|CLNDBN=Spastic ataxia 5, autosomal recessive
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3280977:614487:313772
|CLNHGVS=NC_000018.9:g.12340333T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=604581.0010
|Disease=Spastic ataxia 5
|FwdALT=G
|FwdREF=A
|REF=T
|RSPOS=12340333
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906889
|GENEINFO=AFG3L2:10939
|GENE_ID=10939
|GENE_NAME=AFG3L2
}}