{{Rsnum
|rsid=80338933
|Chromosome=5
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SH3TC2
|position=149026872
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SH3TC2
}}{{omim
|id=608206
|rsnum=80338933
|variant=0005
}}{{ClinVar
|rsid=80338933
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=148406435
|CHROM=5
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000040002110100
|GENEINFO=SH3TC2:79628
|GENE_NAME=SH3TC2
|GENE_ID=79628
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.148406435G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1340; 608206.0005
|CLNSIG=5
|CLNCUI=C1866636; C3150596; C1866636
|CLNDBN=Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild
|Disease=Charcot-Marie-Tooth disease; Mononeuropathy of the median nerve
|CLNACC=RCV000002586.1; RCV000002587.1
|Tags=RV;PM;PMC;S3D;SLO;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM
|CLNDSDBID=NBK1340:NBK1468:C1866636:601596:99949; C3150596:613353
}}{{PMID Auto
|PMID=14574644
|Title=Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
|OA=1
}}

{{PMID Auto
|PMID=16924012
|Title=Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
}}