{{Rsnum
|rsid=80338931
|Chromosome=5
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SH3TC2
|position=149027022
|Gene_s=SH3TC2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80338931
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=148406585
|CHROM=5
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000040002110100
|GENEINFO=SH3TC2:79628
|GENE_NAME=SH3TC2
|GENE_ID=79628
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.148406585G>A
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1340
|CLNSIG=5
|CLNCUI=C1866636
|CLNDBN=Charcot-Marie-Tooth disease, type 4C
|Disease=Charcot-Marie-Tooth disease
|CLNACC=RCV000020894.1
|Tags=RV;PM;PMC;SLO;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1340:NBK1468:C1866636:601596:99949
}}{{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
}}