{{Rsnum
|rsid=104894619
|Gene=PMP22
|Chromosome=17
|position=15231047
|Orientation=plus
|GMAF=0.002296
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PMP22
}}{{omim
|id=601097
|rsnum=104894619
|variant=0005
}}{{ClinVar
|rsid=104894619
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=15134364
|CHROM=17
|GMAF=0.0023
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050160000000040016110100
|GENEINFO=PMP22:5376
|GENE_NAME=PMP22
|GENE_ID=5376
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.15134364G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1205; NBK1392; 601097.0005
|CLNSIG=5
|CLNCUI=CN069173; C0393814
|CLNDBN=Charcot-Marie-Tooth disease, type 1a, autosomal recessive; Hereditary liability to pressure palsies; Charcot-Marie-Tooth disease, type IA
|Disease=Charcot-Marie-Tooth disease; Hereditary liability to pressure palsies; Charcot-Marie-Tooth disease
|CLNACC=RCV000008945.1; RCV000008946.2; RCV000032119.1
|Tags=RV;PM;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9977; 0.002296
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=CN069173; NBK1392:C0393814:162500:640:230558006; NBK1205:C0270911:118220:101081:40632002
|COMMON=1
}}