{{Rsnum
|rsid=61747071
|Gene=RPGRIP1L
|Chromosome=16
|position=53686524
|Orientation=plus
|GMAF=0.03903
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=RPGRIP1L
}}{{omim
|id=610937
|desc=RPGRIP1-LIKE; RPGRIP1L
|rsnum=61747071
}}

{{omim
|id=610937
|rsnum=61747071
|variant=0010
}}

{{ClinVar
|rsid=61747071
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=53720436
|CHROM=16
|GMAF=0.0389
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050168000000150516110100
|GENEINFO=RPGRIP1L:23322
|GENE_NAME=RPGRIP1L
|GENE_ID=23322
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.53720436C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.961; 0.03903
|CLNACC=RCV000001133.1; RCV000035002.1
|CLNDBN=Retinitis pigmentosa in ciliopathies, modifier of; Familial aplasia of the vermis
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1325:C0431399:213300:475:253175003
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1325; 610937.0013
|COMMON=1
|Disease=Retinitis pigmentosa in ciliopathies; Familial aplasia of the vermis
}}

{{PMID Auto
|PMID=19430481
|Title=A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
|OA=1
}}

{{GET Evidence
|gene=RPGRIP1L
|aa_change=Ala229Thr
|aa_change_short=A229T
|impact=pathogenic
|qualified_impact=Low clinical importance, Likely pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs61747071
|overall_frequency_n=604
|overall_frequency_d=10758
|overall_frequency=0.0561443
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=1
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.101
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=4
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=1
|summary_short=This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.
}}

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