{{Rsnum
|rsid=41292677
|Gene=ABCA4
|Chromosome=1
|position=94001992
|Orientation=plus
|GMAF=0.003673
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ABCA4
}}{{omim
|id=601691
|rsnum=41292677
|variant=0005
}}

{{ClinVar
|rsid=41292677
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=94001992
|CHROM=1
|GMAF=0.0037
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050360000a05040116110100
|GENEINFO=ABCA4:24
|GENE_NAME=ABCA4
|GENE_ID=24
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.94001992C>G
|CLNSRC=ClinVar; Emory University; OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=NM_000350.2:c.6148G>C; 11450; 601691.0005; RISN-ABCR:c.6148G>C
|CLNSIG=5
|CLNCUI=C1855465
|CLNDBN=Stargardt disease 1; not provided
|Disease=Stargardt disease 1; not provided
|CLNACC=RCV000008335.1; RCV000078671.2
|Tags=PM;S3D;SLO;NSM;REF;ASP;VLD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9963; 0.003673
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1855465:248200:ORPHA827
|COMMON=1
}}

{{GET Evidence
|gene=ABCA4
|aa_change=Val2050Leu
|aa_change_short=V2050L
|impact=pathogenic
|qualified_impact=High clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs41292677
|overall_frequency_n=40
|overall_frequency_d=10758
|overall_frequency=0.00371816
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualityscore_treatability=1
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.993
|genetests_testable=Y
|nblosum100=0
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=2
|clinical_importance=0
|summary_short=Reported to cause Stargardt Disease (progressive vision loss) in a recessive manner.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}