{{Rsnum
|rsid=17103671
|Gene=RPGRIP1
|Chromosome=14
|position=21343037
|Orientation=plus
|GMAF=0.02617
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=RPGRIP1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 74.8 | 23.8 | 1.4
| ASW | 87.5 | 12.5 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 76.1 | 23.9 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 91.7 | 8.3 | 0.0
| TSI | 99.0 | 1.0 | 0.0
| HapMapRevision=28
}}{{omim
|id=605446
|rsnum=17103671
|variant=0007
}}

{{ClinVar
|rsid=17103671
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=21811196
|CHROM=14
|GMAF=0.0266
|dbSNPBuildID=123
|SSR=0
|SAO=1
|VP=0x050060000000150517110100
|GENEINFO=RPGRIP1:57096
|GENE_NAME=RPGRIP1
|GENE_ID=57096
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.21811196A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605446.0007
|CLNSIG=5
|CLNCUI=C1854260
|CLNDBN=Leber congenital amaurosis 6
|Disease=Leber congenital amaurosis 6
|CLNACC=RCV000005276.1
|Tags=PM;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9738; 0.02617
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1854260:613826:65
|COMMON=1
}}

{{GET Evidence
|gene=RPGRIP1
|aa_change=Asp1114Gly
|aa_change_short=D1114G
|impact=pathogenic
|qualified_impact=High clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs17103671
|overall_frequency_n=258
|overall_frequency_d=9740
|overall_frequency=0.0264887
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|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
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=4
|max_or_disease_name=Leber Congenital Amaurosis
|max_or_case_pos=2
|max_or_case_neg=84
|max_or_control_pos=0
|max_or_control_neg=0
|autoscore=5
|webscore=N
|n_web_uneval=7
|variant_evidence=2
|clinical_importance=0
|summary_short=This variant is hypothesized to cause Leber's Congenital Amaurosis in a recessive manner (causing severe vision loss and blindness), but stastical significance cannot be established without any observations of allele frequency in controls. This variant is a missense and predicted by Polyphen 2 to have a benign effect, while other causal variants implicated in this gene are severe truncating variants (nonsense or frameshift mutations).
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}