{{Rsnum
|rsid=76157638
|Gene=ABCA4
|Chromosome=1
|position=94051698
|Orientation=plus
|GMAF=0.0004591
|Gene_s=ABCA4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ClinVar
|rsid=76157638
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=94051698
|CHROM=1
|GMAF=0.0005
|dbSNPBuildID=134
|SSR=0
|SAO=1
|VP=0x050160000a05040016110100
|GENEINFO=ABCA4:24
|GENE_NAME=ABCA4
|GENE_ID=24
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.94051698C>G
|CLNSRC=ClinVar; OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=NM_000350.2:c.2588G>C; 601691.0001; RISN-ABCR:c.2588G>C
|CLNSIG=5
|CLNCUI=C1855465; C1858806
|CLNDBN=Stargardt disease 1; Cone-rod dystrophy 3; not provided
|Disease=Stargardt disease 1; Cone-rod dystrophy 3; not provided
|CLNACC=RCV000008328.1; RCV000008329.1; RCV000085494.1
|Tags=PM;SLO;NSM;REF;ASP;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1855465:248200:ORPHA827; C1858806:604116:ORPHA1872
|COMMON=0
}}{{GET Evidence
|gene=ABCA4
|aa_change=Gly863Ala
|aa_change_short=G863A
|impact=pathogenic
|qualified_impact=High clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs76157638
|overall_frequency_n=53
|overall_frequency_d=10758
|overall_frequency=0.00492657
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=5
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=0
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=2
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.991
|genetests_testable=Y
|nblosum100=1
|max_or_disease_name=Stargardt Disease, Autosomal Recessive
|max_or_case_pos=3
|max_or_case_neg=45
|max_or_control_pos=0
|max_or_control_neg=50
|max_or_or=INF
|autoscore=5
|webscore=N
|n_web_uneval=9
|variant_evidence=2
|clinical_importance=0
|summary_short=Identified in three compound heterozygote cases of Stargardt Disease.
}}