{{Rsnum
|rsid=12449580
|Gene=AIPL1
|Chromosome=17
|position=6433927
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.2245
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=AIPL1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 64.3 | 28.6 | 7.1
| HCB | 46.7 | 37.2 | 16.1
| JPT | 37.2 | 48.7 | 14.2
| YRI | 86.4 | 12.9 | 0.7
| ASW | 87.7 | 12.3 | 0.0
| CHB | 46.7 | 37.2 | 16.1
| CHD | 41.3 | 45.9 | 12.8
| GIH | 87.0 | 11.0 | 2.0
| LWK | 87.2 | 12.8 | 0.0
| MEX | 61.4 | 33.3 | 5.3
| MKK | 68.4 | 29.7 | 1.9
| TSI | 49.0 | 45.1 | 5.9
| HapMapRevision=28
}}

{{Venter SNP
|rsid=12449580
|allele=G
|frequency=0.263
|uid=1103645270912
|type=heterozygous_SNP
|hugo=AIPL1
|ensembl gene=ENSG00000129221
|ensembl transcript=ENST00000381129
|sift=AFFECT FUNCTION
|disease=Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) (MIM:204000, 604393). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
}}

{{GET Evidence
|gene=AIPL1
|aa_change=Asp90His
|aa_change_short=D90H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12449580
|overall_frequency_n=1780
|overall_frequency_d=10758
|overall_frequency=0.165458
|n_genomes=23
|n_genomes_annotated=0
|n_haplomes=26
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=5
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.029
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=3
|n_web_uneval=7
}}

{{ClinVar
|ALT=G
|CAF=0.7755; 0.2245
|CHROM=17
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.6337247C>G
|CLNSIG=1
|COMMON=1
|FwdALT=G
|FwdREF=C
|GENEINFO=AIPL1:23746
|GENE_ID=23746
|GENE_NAME=AIPL1
|REF=C
|RSPOS=6337247
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|VC=SNV
|VP=0x05016000000017051f100101
|WGT=0
|dbSNPBuildID=120
|rsid=12449580
|CLNACC=RCV000086217.1
|CLNDBN=not provided
|CLNSRC=Retina International
|CLNSRCID=RISN-AIPL1:c.268G>C
|Disease=not provided
}}

{{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}}