rs119483085
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 133258374 |
| Gene | NDRG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119483085 |
| dbSNP (classic) | rs119483085 |
| ClinGen | rs119483085 |
| ebi | rs119483085 |
| HLI | rs119483085 |
| Exac | rs119483085 |
| Gnomad | rs119483085 |
| Varsome | rs119483085 |
| LitVar | rs119483085 |
| Map | rs119483085 |
| PheGenI | rs119483085 |
| Biobank | rs119483085 |
| 1000 genomes | rs119483085 |
| hgdp | rs119483085 |
| ensembl | rs119483085 |
| geneview | rs119483085 |
| scholar | rs119483085 |
| rs119483085 | |
| pharmgkb | rs119483085 |
| gwascentral | rs119483085 |
| openSNP | rs119483085 |
| 23andMe | rs119483085 |
| SNPshot | rs119483085 |
| SNPdbe | rs119483085 |
| MSV3d | rs119483085 |
| GWAS Ctlg | rs119483085 |
| Max Magnitude | 6 |
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.
| ClinVar | |
|---|---|
| Risk | Rs119483085(T;T) |
| Alt | Rs119483085(T;T) |
| Reference | Rs119483085(C;C) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | NDRG1 |
| CLNDBN | Charcot-Marie-Tooth disease, type 4D Charcot-Marie-Tooth disease, type IV |
| Reversed | 1 |
| HGVS | NC_000008.10:g.134270617G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005427.1, RCV000469692.1, |
