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rs80338920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338920(A;G)
Make rs80338920(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149041619
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338920
ebirs80338920
HLIrs80338920
Exacrs80338920
Varsomers80338920
Maprs80338920
PheGenIrs80338920
hapmaprs80338920
1000 genomesrs80338920
hgdprs80338920
ensemblrs80338920
gopubmedrs80338920
geneviewrs80338920
scholarrs80338920
googlers80338920
pharmgkbrs80338920
gwascentralrs80338920
openSNPrs80338920
23andMers80338920
23andMe allrs80338920
SNP Nexus

SNPshotrs80338920
SNPdbers80338920
MSV3drs80338920
GWAS Ctlgrs80338920
Max Magnitude0
OMIM608206
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338920(G;G)
Alt rs80338920(G;G)
Reference rs80338920(A;A)
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.148421182T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002584.4,


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