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rs121909078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909078(C;T)
Make rs121909078(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position128806576
GeneRAB7A
is asnp
is mentioned by
dbSNPrs121909078
ebirs121909078
HLIrs121909078
Exacrs121909078
Varsomers121909078
Maprs121909078
PheGenIrs121909078
hapmaprs121909078
1000 genomesrs121909078
hgdprs121909078
ensemblrs121909078
gopubmedrs121909078
geneviewrs121909078
scholarrs121909078
googlers121909078
pharmgkbrs121909078
gwascentralrs121909078
openSNPrs121909078
23andMers121909078
23andMe allrs121909078
SNP Nexus

SNPshotrs121909078
SNPdbers121909078
MSV3drs121909078
GWAS Ctlgrs121909078
Max Magnitude0
OMIM602298
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909078(T;T)
Alt rs121909078(T;T)
Reference rs121909078(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene RAB7A
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2b not provided
Reversed 0
HGVS NC_000003.11:g.128525419C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007770.2, RCV000059221.1,


[PMID 12545426OA-icon.png] Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.


[PMID 21151572OA-icon.png] Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.