{{Rsnum
|rsid=80356756
|Orientation=plus
|Chromosome=12
|geno1=(-;-)
|geno2=(-;A)
|geno3=(A;A)
|Gene=ATP6V0A2
|position=123748779
|Gene_s=ATP6V0A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=12
|CLNACC=RCV000020684.2
|CLNALLE=1
|CLNDBN=Cutis laxa with osteodystrophy
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK5200:C0268355:219200:90350:73856006
|CLNHGVS=NC_000012.11:g.124233326delA
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK5200
|Disease=Cutis laxa with osteodystrophy
|FwdREF=A
|GENEINFO=ATP6V0A2:23545
|GENE_ID=23545
|GENE_NAME=ATP6V0A2
|REF=CA
|RSPOS=124233325
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050168000000000002110200
|WGT=0
|dbSNPBuildID=131
|rsid=80356756
}}{{PMID Auto
|PMID=18157129
|Title=Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
}}