{{Rsnum
|rsid=3807153
|Gene=ATP6V0A4
|Chromosome=7
|position=138733046
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.07805
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ATP6V0A4
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.0 | 5.3 | 94.7
| HCB | 1.5 | 8.0 | 90.5
| JPT | 0.0 | 12.4 | 87.6
| YRI | 4.1 | 25.3 | 70.5
| ASW | 3.5 | 22.8 | 73.7
| CHB | 1.5 | 8.0 | 90.5
| CHD | 0.0 | 5.6 | 94.4
| GIH | 1.0 | 24.2 | 74.7
| LWK | 9.1 | 41.8 | 49.1
| MEX | 1.8 | 3.5 | 94.7
| MKK | 6.5 | 40.0 | 53.5
| TSI | 0.0 | 5.9 | 94.1
| HapMapRevision=28
}}{{omim
|desc=RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|id=605239
|quiet=1
|rsnum=3807153
|variant=0005
}}

{{ClinVar
|rsid=3807153
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=138417791
|CHROM=7
|GMAF=0.0778
|dbSNPBuildID=107
|SSR=0
|SAO=1
|VP=0x050160000000150517110100
|GENEINFO=ATP6V0A4:50617
|GENE_NAME=ATP6V0A4
|GENE_ID=50617
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.138417791A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605239.0005
|CLNSIG=5
|CLNCUI=C1864498
|CLNDBN=Renal tubular acidosis, distal, autosomal recessive
|Disease=Renal tubular acidosis
|CLNACC=RCV000005461.1
|Tags=RV;PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9219; 0.07805
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C1864498:602722:18:93609
|COMMON=1
}}

{{GET Evidence
|gene=ATP6V0A4
|aa_change=Met580Thr
|aa_change_short=M580T
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs3807153
|overall_frequency_n=1049
|overall_frequency_d=10758
|overall_frequency=0.0975088
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=0
|qualityscore_case_control=!
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|nblosum100=2
|autoscore=3
|webscore=N
|n_web_uneval=1
|summary_short=This was observed in a patient with distal renal tubular acidosis, but frequency in 1000 genomes and HapMap (7% and 12.5%) means this variant is likely benign.  Distal renal tubular acidosis occurs when the alpha intercalated cells of the cortical collecting duct fail to secrete acid, and consequently, the body retains such acid.  The acid retention in turn givew rise to symptoms such as hypokalemia, Urinary stone formation, nephrocalcinosis (deposition of calcium in the substance of the kidney), and bone demineralisation (causing rickets in children and osteomalacia in adults). 
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}