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rs80338931

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338931(C;T)
Make rs80338931(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149027022
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338931
ebirs80338931
HLIrs80338931
Exacrs80338931
Varsomers80338931
Maprs80338931
PheGenIrs80338931
hapmaprs80338931
1000 genomesrs80338931
hgdprs80338931
ensemblrs80338931
gopubmedrs80338931
geneviewrs80338931
scholarrs80338931
googlers80338931
pharmgkbrs80338931
gwascentralrs80338931
openSNPrs80338931
23andMers80338931
23andMe allrs80338931
SNP Nexus

SNPshotrs80338931
SNPdbers80338931
MSV3drs80338931
GWAS Ctlgrs80338931
Max Magnitude0
ClinVar
Risk rs80338931(T;T)
Alt rs80338931(T;T)
Reference rs80338931(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type 4C Charcot-Marie-Tooth disease, type IV
Reversed 1
HGVS NC_000005.9:g.148406585G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020894.1, RCV000205920.2,


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