rs80356683
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80356683(C;T) |
| Make rs80356683(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 183215467 |
| Gene | LAMC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356683 |
| dbSNP (classic) | rs80356683 |
| ClinGen | rs80356683 |
| ebi | rs80356683 |
| HLI | rs80356683 |
| Exac | rs80356683 |
| Gnomad | rs80356683 |
| Varsome | rs80356683 |
| LitVar | rs80356683 |
| Map | rs80356683 |
| PheGenI | rs80356683 |
| Biobank | rs80356683 |
| 1000 genomes | rs80356683 |
| hgdp | rs80356683 |
| ensembl | rs80356683 |
| geneview | rs80356683 |
| scholar | rs80356683 |
| rs80356683 | |
| pharmgkb | rs80356683 |
| gwascentral | rs80356683 |
| openSNP | rs80356683 |
| 23andMe | rs80356683 |
| SNPshot | rs80356683 |
| SNPdbe | rs80356683 |
| MSV3d | rs80356683 |
| GWAS Ctlg | rs80356683 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356683(T;T) |
| Alt | rs80356683(T;T) |
| Reference | Rs80356683(C;C) |
| Significance | Pathogenic |
| Disease | Junctional epidermolysis bullosa gravis of Herlitz |
| Variation | info |
| Gene | LAMC2 |
| CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
| Reversed | 0 |
| HGVS | NC_000001.10:g.183184602C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015656.26, |
[PMID 8012394] Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).
