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rs80338934

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338934(C;T)
Make rs80338934(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149010272
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338934
ebirs80338934
HLIrs80338934
Exacrs80338934
Varsomers80338934
Maprs80338934
PheGenIrs80338934
hapmaprs80338934
1000 genomesrs80338934
hgdprs80338934
ensemblrs80338934
gopubmedrs80338934
geneviewrs80338934
scholarrs80338934
googlers80338934
pharmgkbrs80338934
gwascentralrs80338934
openSNPrs80338934
23andMers80338934
23andMe allrs80338934
SNP Nexus

SNPshotrs80338934
SNPdbers80338934
MSV3drs80338934
GWAS Ctlgrs80338934
Max Magnitude0
OMIM608206
Desc
Variant0006
Relatedalso


ClinVar
Risk rs80338934(T;T)
Alt rs80338934(T;T)
Reference rs80338934(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type 4C not provided
Reversed 1
HGVS NC_000005.9:g.148389835G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002588.4, RCV000218266.1,



[PMID 16326826OA-icon.png] A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.


[PMID 17470135] The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.