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rs80338923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338923(A;A)
Make rs80338923(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149028146
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338923
ebirs80338923
HLIrs80338923
Exacrs80338923
Varsomers80338923
Maprs80338923
PheGenIrs80338923
hapmaprs80338923
1000 genomesrs80338923
hgdprs80338923
ensemblrs80338923
gopubmedrs80338923
geneviewrs80338923
scholarrs80338923
googlers80338923
pharmgkbrs80338923
gwascentralrs80338923
openSNPrs80338923
23andMers80338923
23andMe allrs80338923
SNP Nexus

SNPshotrs80338923
SNPdbers80338923
MSV3drs80338923
GWAS Ctlgrs80338923
Max Magnitude0
OMIM608206
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338923(A;A)
Alt rs80338923(A;A)
Reference rs80338923(G;G)
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.148407709C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002582.4,


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