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rs80338936

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338936(-;-)
Make rs80338936(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position149008988
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338936
ebirs80338936
HLIrs80338936
Exacrs80338936
Varsomers80338936
Maprs80338936
PheGenIrs80338936
hapmaprs80338936
1000 genomesrs80338936
hgdprs80338936
ensemblrs80338936
gopubmedrs80338936
geneviewrs80338936
scholarrs80338936
googlers80338936
pharmgkbrs80338936
gwascentralrs80338936
openSNPrs80338936
23andMers80338936
23andMe allrs80338936
SNP Nexus

SNPshotrs80338936
SNPdbers80338936
MSV3drs80338936
GWAS Ctlgrs80338936
Max Magnitude0
ClinVar
Risk rs80338936(;)
Alt rs80338936(;)
Reference rs80338936(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.148388551delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020897.1,


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