{{Rsnum
|rsid=1055138
|Gene=CYP4V2
|Chromosome=4
|position=186191887
|Orientation=minus
|GMAF=0.438
|Gene_s=CYP4V2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 14.3 | 52.4 | 33.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{ClinVar
|rsid=1055138
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=187113041
|CHROM=4
|GMAF=0.4386
|dbSNPBuildID=86
|SSR=0
|SAO=0
|VP=0x050160000000170117100100
|GENEINFO=FLJ38576:651430; CYP4V2:285440
|GENE_NAME=FLJ38576; CYP4V2
|GENE_ID=651430; 285440
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000004.11:g.187113041C>G
|CLNSIG=5
|Tags=RV;PM;SLO;VLD;G5A;G5;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.562; 0.438
|CLNACC=RCV000032544.2; RCV000082840.1
|CLNDBN=Bietti crystalline corneoretinal dystrophy; AllHighlyPenetrant
|CLNDSDB=GeneReviews:MedGen:OMIM; MedGen
|CLNDSDBID=NBK91457:C1859486:210370; CN169374
|CLNSRC=Emory University; GeneReviews
|CLNSRCID=13434; NBK91457
|COMMON=1
|Disease=Bietti crystalline corneoretinal dystrophy; AllHighlyPenetrant
}}{{GET Evidence
|gene=CYP4V2
|aa_change=Leu22Val
|aa_change_short=L22V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1055138
|overall_frequency_n=4871
|overall_frequency_d=10594
|overall_frequency=0.459789
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.022
|nblosum100=0
|autoscore=1
|n_web_uneval=2
}}