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rs80338926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338926(C;T)
Make rs80338926(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149027760
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338926
ebirs80338926
HLIrs80338926
Exacrs80338926
Varsomers80338926
Maprs80338926
PheGenIrs80338926
hapmaprs80338926
1000 genomesrs80338926
hgdprs80338926
ensemblrs80338926
gopubmedrs80338926
geneviewrs80338926
scholarrs80338926
googlers80338926
pharmgkbrs80338926
gwascentralrs80338926
openSNPrs80338926
23andMers80338926
23andMe allrs80338926
SNP Nexus

SNPshotrs80338926
SNPdbers80338926
MSV3drs80338926
GWAS Ctlgrs80338926
Max Magnitude0
ClinVar
Risk rs80338926(T;T)
Alt rs80338926(T;T)
Reference rs80338926(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.148407323G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020888.1, RCV000236498.1,


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