{{Rsnum
|rsid=191582628
|Gene=POLR1C
|Chromosome=6
|position=43520962
|Orientation=plus
|GMAF=0.0004591
|Gene_s=POLR1C
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|ALT=A
|CAF=0.9995; 0.0004591
|CHROM=6
|CLNACC=RCV000023796.1
|CLNALLE=1
|CLNDBN=Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1532:C1855433:248390:861
|CLNHGVS=NC_000006.11:g.43488700G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=610060.0001
|COMMON=0
|Disease=Mandibulofacial dysostosis
|FwdALT=A
|FwdREF=G
|GENEINFO=POLR1C:9533
|GENE_ID=9533
|GENE_NAME=POLR1C
|REF=G
|RSPOS=43488700
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000016110100
|WGT=0
|dbSNPBuildID=135
|rsid=191582628
}}