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rs80338929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs80338929(-;-)
Make rs80338929(-;AG)
ReferenceGRCh38 38.1/141
Chromosome5
Position149027240
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338929
ebirs80338929
HLIrs80338929
Exacrs80338929
Varsomers80338929
Maprs80338929
PheGenIrs80338929
hapmaprs80338929
1000 genomesrs80338929
hgdprs80338929
ensemblrs80338929
gopubmedrs80338929
geneviewrs80338929
scholarrs80338929
googlers80338929
pharmgkbrs80338929
gwascentralrs80338929
openSNPrs80338929
23andMers80338929
23andMe allrs80338929
SNP Nexus

SNPshotrs80338929
SNPdbers80338929
MSV3drs80338929
GWAS Ctlgrs80338929
Max Magnitude0
ClinVar
Risk rs80338929(;)
Alt rs80338929(;)
Reference rs80338929(AG;AG)
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.148406803_148406804delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020892.1,


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