{{Rsnum
|rsid=386833997
|Chromosome=16
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=RPGRIP1L
|position=53652858
|Gene_s=RPGRIP1L
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=16
|CLNACC=RCV000049974.1
|CLNALLE=1
|CLNDBN=Meckel syndrome type 5
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1969052:611561:564
|CLNHGVS=NC_000016.9:g.53686770T>G
|CLNSIG=4
|Disease=Meckel syndrome type 5
|FwdALT=C
|FwdREF=A
|REF=T
|RSPOS=53686770
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386833997
|GENEINFO=RPGRIP1L:23322
|GENE_ID=23322
|GENE_NAME=RPGRIP1L
}}{{PMID Auto
|PMID=21068128
|Title=Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
|OA=1
}}