{{Rsnum
|rsid=80356750
|Chromosome=12
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ATP6V0A2
|position=123718692
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ATP6V0A2
}}{{omim
|id=611716
|rsnum=80356750
|variant=0002
}}{{ClinVar
|rsid=80356750
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=124203239
|CHROM=12
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=ATP6V0A2:23545
|GENE_NAME=ATP6V0A2
|GENE_ID=23545
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.124203239C>T
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=13998; NBK5200; 611716.0002
|CLNSIG=5
|CLNCUI=C0268355; C0268355
|CLNDBN=Cutis laxa with osteodystrophy; not provided
|Disease=Cutis laxa with osteodystrophy; not provided
|CLNACC=RCV000000888.2; RCV000081548.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK5200:C0268355:219200:90350:73856006
}}{{PMID Auto
|PMID=15657616
|Title=Defective protein glycosylation in patients with cutis laxa syndrome.
}}

{{PMID Auto
|PMID=18157129
|Title=Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
}}