rs587777892
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 4 | Charcot-Marie-Tooth disease possibility |
| Make rs587777892(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 156136008 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587777892 |
| dbSNP (classic) | rs587777892 |
| ClinGen | rs587777892 |
| ebi | rs587777892 |
| HLI | rs587777892 |
| Exac | rs587777892 |
| Gnomad | rs587777892 |
| Varsome | rs587777892 |
| LitVar | rs587777892 |
| Map | rs587777892 |
| PheGenI | rs587777892 |
| Biobank | rs587777892 |
| 1000 genomes | rs587777892 |
| hgdp | rs587777892 |
| ensembl | rs587777892 |
| geneview | rs587777892 |
| scholar | rs587777892 |
| rs587777892 | |
| pharmgkb | rs587777892 |
| gwascentral | rs587777892 |
| openSNP | rs587777892 |
| 23andMe | rs587777892 |
| SNPshot | rs587777892 |
| SNPdbe | rs587777892 |
| MSV3d | rs587777892 |
| GWAS Ctlg | rs587777892 |
| Max Magnitude | 4 |
rs587777892 is a heterozygous 1044G>T nucleotide change in the LMNA gene. The nucleotide change predicts an amino acid substitution of methionine to isoleucine at amino acid residue 348 (M3481 or Met348Ile), and it is considered in the article cited below to be a causative (and autosomal dominant) change leading to Charcot-Marie-Tooth disease.
| ClinVar | |
|---|---|
| Risk | rs587777892(T;T) |
| Alt | rs587777892(T;T) |
| Reference | Rs587777892(G;G) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | LMNA |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156105799G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000144027.1, |
