{{Rsnum
|rsid=80338923
|Chromosome=5
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SH3TC2
|position=149028146
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SH3TC2
}}{{omim
|id=608206
|rsnum=80338923
|variant=0001
}}{{ClinVar
|rsid=80338923
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=148407709
|CHROM=5
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=SH3TC2:79628
|GENE_NAME=SH3TC2
|GENE_ID=79628
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.148407709C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1340; 608206.0001
|CLNSIG=5
|CLNCUI=C1866636; C1866636
|CLNDBN=Charcot-Marie-Tooth disease, type 4C
|Disease=Charcot-Marie-Tooth disease
|CLNACC=RCV000002582.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1340:NBK1468:C1866636:601596:99949
}}{{PMID|14574644|OA=1
}} Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.