rs137854566
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 5.5 | Neurofibromatosis type 1 |
| (C;T) | 5.5 | Neurofibromatosis type 1 |
| (G;T) | 5.5 | Neurofibromatosis type 1 |
| (T;T) | 0 | common in clinvar |
| Make rs137854566(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 31229146 |
| Gene | NF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854566 |
| dbSNP (classic) | rs137854566 |
| ClinGen | rs137854566 |
| ebi | rs137854566 |
| HLI | rs137854566 |
| Exac | rs137854566 |
| Gnomad | rs137854566 |
| Varsome | rs137854566 |
| LitVar | rs137854566 |
| Map | rs137854566 |
| PheGenI | rs137854566 |
| Biobank | rs137854566 |
| 1000 genomes | rs137854566 |
| hgdp | rs137854566 |
| ensembl | rs137854566 |
| geneview | rs137854566 |
| scholar | rs137854566 |
| rs137854566 | |
| pharmgkb | rs137854566 |
| gwascentral | rs137854566 |
| openSNP | rs137854566 |
| 23andMe | rs137854566 |
| SNPshot | rs137854566 |
| SNPdbe | rs137854566 |
| MSV3d | rs137854566 |
| GWAS Ctlg | rs137854566 |
| Max Magnitude | 5.5 |
all possible mutations are known at this variant: c.2531T>A, c.2531T>C and c.2531T>G, also known as p.Leu844His, p.Leu844Pro and p.Leu844Arg, respectively, and all are considered pathogenic for neurofibromatosis type 1.
see NF1
| ClinVar | |
|---|---|
| Risk | rs137854566(C;C) rs137854566(G;G) |
| Alt | rs137854566(C;C) rs137854566(G;G) |
| Reference | Rs137854566(T;T) |
| Significance | Pathogenic |
| Disease | not provided Neurofibromatosis |
| Variation | info |
| Gene | NF1 |
| CLNDBN | not provided Neurofibromatosis, type 1 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.29556164T>C; NC_000017.10:g.29556164T>G |
| CLNSRC | UniProtKB (protein) UniProtKB (variants) OMIM Allelic Variant |
| CLNACC | RCV000059174.1, RCV000000404.4, |
[PMID 15060124
] Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
