rs80356680
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of epidermolysis bullosa allele |
| (T;T) | 5 | epidermolysis bullosa |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 209650023 |
| Gene | LAMB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356680 |
| dbSNP (classic) | rs80356680 |
| ClinGen | rs80356680 |
| ebi | rs80356680 |
| HLI | rs80356680 |
| Exac | rs80356680 |
| Gnomad | rs80356680 |
| Varsome | rs80356680 |
| LitVar | rs80356680 |
| Map | rs80356680 |
| PheGenI | rs80356680 |
| Biobank | rs80356680 |
| 1000 genomes | rs80356680 |
| hgdp | rs80356680 |
| ensembl | rs80356680 |
| geneview | rs80356680 |
| scholar | rs80356680 |
| rs80356680 | |
| pharmgkb | rs80356680 |
| gwascentral | rs80356680 |
| openSNP | rs80356680 |
| 23andMe | rs80356680 |
| SNPshot | rs80356680 |
| SNPdbe | rs80356680 |
| MSV3d | rs80356680 |
| GWAS Ctlg | rs80356680 |
| Merged from | Rs121912481 |
| Max Magnitude | 5 |
epidermolysis bullosa, junctional, Herlitz type
| ClinVar | |
|---|---|
| Risk | Rs80356680(T;T) |
| Alt | Rs80356680(T;T) |
| Reference | Rs80356680(C;C) |
| Significance | Pathogenic |
| Disease | Junctional epidermolysis bullosa gravis of Herlitz not provided |
| Variation | info |
| Gene | LAMB3 |
| CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.209823368G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015641.30, RCV000261136.1, |
[PMID 8824879] Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
[PMID 9767254] E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
