{{Rsnum
|rsid=80338934
|Chromosome=5
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SH3TC2
|position=149010272
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SH3TC2
}}{{omim
|id=608206
|rsnum=80338934
|variant=0006
}}

{{ClinVar
|rsid=80338934
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=148389835
|CHROM=5
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=SH3TC2:79628
|GENE_NAME=SH3TC2
|GENE_ID=79628
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.148389835G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1340; 608206.0006
|CLNSIG=5
|CLNCUI=C1866636; C1866636
|CLNDBN=Charcot-Marie-Tooth disease, type 4C
|Disease=Charcot-Marie-Tooth disease
|CLNACC=RCV000002588.1
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1340:NBK1468:C1866636:601596:99949
}}

{{PMID Auto
|PMID=16326826
|Title=A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
|OA=1
}}

{{PMID Auto
|PMID=17470135
|Title=The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}