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rs80338937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338937(C;T)
Make rs80338937(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149006955
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338937
ebirs80338937
HLIrs80338937
Exacrs80338937
Varsomers80338937
Maprs80338937
PheGenIrs80338937
hapmaprs80338937
1000 genomesrs80338937
hgdprs80338937
ensemblrs80338937
gopubmedrs80338937
geneviewrs80338937
scholarrs80338937
googlers80338937
pharmgkbrs80338937
gwascentralrs80338937
openSNPrs80338937
23andMers80338937
23andMe allrs80338937
SNP Nexus

SNPshotrs80338937
SNPdbers80338937
MSV3drs80338937
GWAS Ctlgrs80338937
Max Magnitude0
ClinVar
Risk rs80338937(T;T)
Alt rs80338937(T;T)
Reference rs80338937(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type 4C
Reversed 1
HGVS NC_000005.9:g.148386518G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020898.1,


[PMID 14574644OA-icon.png] Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.