rs786205451
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 9.1 | Epidermolysis bullosa (predicted) |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 209624001 |
| Gene | LAMB3, MIR4260 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786205451 |
| dbSNP (classic) | rs786205451 |
| ClinGen | rs786205451 |
| ebi | rs786205451 |
| HLI | rs786205451 |
| Exac | rs786205451 |
| Gnomad | rs786205451 |
| Varsome | rs786205451 |
| LitVar | rs786205451 |
| Map | rs786205451 |
| PheGenI | rs786205451 |
| Biobank | rs786205451 |
| 1000 genomes | rs786205451 |
| hgdp | rs786205451 |
| ensembl | rs786205451 |
| geneview | rs786205451 |
| scholar | rs786205451 |
| rs786205451 | |
| pharmgkb | rs786205451 |
| gwascentral | rs786205451 |
| openSNP | rs786205451 |
| 23andMe | rs786205451 |
| SNPshot | rs786205451 |
| SNPdbe | rs786205451 |
| MSV3d | rs786205451 |
| GWAS Ctlg | rs786205451 |
| Max Magnitude | 9.1 |
rs786205451, also known as c.1977-1G>A, is a variant in the LAMB3 gene located on chromosome 1.
The rs786205451(A) allele, when inherited recessively, is considered pathogenic in ClinVar for junctional epidermolysis bullosa (JEB).
In 2017, a team of researchers reported the successful regeneration of a young JEB patient's skin using transgenic stem cells. The patient was homozygous for this mutation, i.e. carried the rs786205451(A;A) genotype.10.1038/nature24487
| ClinVar | |
|---|---|
| Risk | Rs786205451(A;A) |
| Alt | Rs786205451(A;A) |
| Reference | Rs786205451(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | MIR4260 LAMB3 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.209797346C>T |
| CLNSRC | |
| CLNACC | RCV000171166.1, |
