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rs119483085

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of one Charcot Marie Tooth disease allele
(T;T) 6 Charcot Marie Tooth disease
ReferenceGRCh38 38.1/141
Chromosome8
Position133258374
GeneNDRG1
is asnp
is mentioned by
dbSNPrs119483085
ebirs119483085
HLIrs119483085
Exacrs119483085
Varsomers119483085
Maprs119483085
PheGenIrs119483085
hapmaprs119483085
1000 genomesrs119483085
hgdprs119483085
ensemblrs119483085
gopubmedrs119483085
geneviewrs119483085
scholarrs119483085
googlers119483085
pharmgkbrs119483085
gwascentralrs119483085
openSNPrs119483085
23andMers119483085
23andMe allrs119483085
SNP Nexus

SNPshotrs119483085
SNPdbers119483085
MSV3drs119483085
GWAS Ctlgrs119483085
Max Magnitude6

rs119483085, also known as c.442C>T, p.Arg148Ter and R148X, is a mutation in the NDRG1 gene on chromosome 8.

The rare rs119483085(T) allele, when inherited recessively (i.e. in two copies), is reported to be causative for Charcot-Marie-Tooth disease, type 4D. See OMIM 605262.0001 for more details.

This SNP is referred to as i5008730 by 23andMe, which represents it on the plus strand.

OMIM605262
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119483085(T;T)
Alt rs119483085(T;T)
Reference rs119483085(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene NDRG1
CLNDBN Charcot-Marie-Tooth disease, type 4D
Reversed 1
HGVS NC_000008.10:g.134270617G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005427.1,