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rs199422214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422214(G;T)
Make rs199422214(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position24955888
GeneNEFL
is asnp
is mentioned by
dbSNPrs199422214
ebirs199422214
HLIrs199422214
Exacrs199422214
Varsomers199422214
Maprs199422214
PheGenIrs199422214
hapmaprs199422214
1000 genomesrs199422214
hgdprs199422214
ensemblrs199422214
gopubmedrs199422214
geneviewrs199422214
scholarrs199422214
googlers199422214
pharmgkbrs199422214
gwascentralrs199422214
openSNPrs199422214
23andMers199422214
23andMe allrs199422214
SNP Nexus

SNPshotrs199422214
SNPdbers199422214
MSV3drs199422214
GWAS Ctlgrs199422214
Max Magnitude0
ClinVar
Risk rs199422214(T;T)
Alt rs199422214(T;T)
Reference rs199422214(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene NEFL
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1f
Reversed 1
HGVS NC_000008.10:g.24813402C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022674.26,


[PMID 20039262OA-icon.png] A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.