{{Rsnum
|rsid=104895317
|Chromosome=12
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=MVK
|position=109595142
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=MVK
}}{{omim
|id=251170
|rsnum=104895317
|variant=0006
}}
{{omim
|id=260920
|rsnum=104895317
}}{{ClinVar
|rsid=104895317
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=110032947
|CHROM=12
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=MVK:4598
|GENE_NAME=MVK
|GENE_ID=4598
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.110032947G>A
|CLNSRC=OMIM Allelic Variant; UnitÃ© mÃ©dicale des maladies autoinflammatoires
|CLNORIGIN=1
|CLNSRCID=251170.0006; 268
|CLNSIG=5
|CLNCUI=C1959626
|CLNDBN=Mevalonic aciduria; Hyperimmunoglobulin D with periodic fever
|Disease=Mevalonic aciduria; Hyperimmunoglobulin D with periodic fever
|CLNACC=RCV000012706.22; RCV000074422.16
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet; MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1959626:610377:29; C0398691:260920:343:234538002
}}{{PMID Auto
|PMID=9334262
|Title=Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.
}}