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rs80338925

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338925(A;A)
Make rs80338925(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149027763
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338925
ebirs80338925
HLIrs80338925
Exacrs80338925
Varsomers80338925
Maprs80338925
PheGenIrs80338925
hapmaprs80338925
1000 genomesrs80338925
hgdprs80338925
ensemblrs80338925
gopubmedrs80338925
geneviewrs80338925
scholarrs80338925
googlers80338925
pharmgkbrs80338925
gwascentralrs80338925
openSNPrs80338925
23andMers80338925
23andMe allrs80338925
SNP Nexus

SNPshotrs80338925
SNPdbers80338925
MSV3drs80338925
GWAS Ctlgrs80338925
Max Magnitude0
OMIM608206
Desc
Variant0007
Relatedalso
OMIM601596
Desc
Variant
Relatedalso


ClinVar
Risk rs80338925(A;A)
Alt rs80338925(A;A)
Reference rs80338925(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type 4C Charcot-Marie-Tooth disease, type IV
Reversed 1
HGVS NC_000005.9:g.148407326C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020887.4, RCV000206757.1,



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