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rs80338932

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338932(G;G)
Make rs80338932(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149026903
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338932
ebirs80338932
HLIrs80338932
Exacrs80338932
Varsomers80338932
Maprs80338932
PheGenIrs80338932
hapmaprs80338932
1000 genomesrs80338932
hgdprs80338932
ensemblrs80338932
gopubmedrs80338932
geneviewrs80338932
scholarrs80338932
googlers80338932
pharmgkbrs80338932
gwascentralrs80338932
openSNPrs80338932
23andMers80338932
23andMe allrs80338932
SNP Nexus

SNPshotrs80338932
SNPdbers80338932
MSV3drs80338932
GWAS Ctlgrs80338932
Max Magnitude0
OMIM608206
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80338932(G;G)
Alt rs80338932(G;G)
Reference rs80338932(T;T)
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.148406466A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002585.3,


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