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rs80338933

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338933(C;T)
Make rs80338933(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position149026872
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338933
ebirs80338933
HLIrs80338933
Exacrs80338933
Varsomers80338933
Maprs80338933
PheGenIrs80338933
hapmaprs80338933
1000 genomesrs80338933
hgdprs80338933
ensemblrs80338933
gopubmedrs80338933
geneviewrs80338933
scholarrs80338933
googlers80338933
pharmgkbrs80338933
gwascentralrs80338933
openSNPrs80338933
23andMers80338933
23andMe allrs80338933
SNP Nexus

SNPshotrs80338933
SNPdbers80338933
MSV3drs80338933
GWAS Ctlgrs80338933
Max Magnitude0
OMIM608206
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80338933(T;T)
Alt rs80338933(T;T)
Reference rs80338933(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Mononeuropathy of the median nerve Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type IV
Reversed 1
HGVS NC_000005.9:g.148406435G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002586.5, RCV000002587.4, RCV000144877.1, RCV000168436.4,


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


[PMID 16924012] Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.