rs80356816
From SNPedia
| Merged into | rs61126080 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356816(-;-) |
| Make rs80356816(-;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52515066 |
| Gene | KRT5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356816 |
| dbSNP (classic) | rs80356816 |
| ClinGen | rs80356816 |
| ebi | rs80356816 |
| HLI | rs80356816 |
| Exac | rs80356816 |
| Gnomad | rs80356816 |
| Varsome | rs80356816 |
| LitVar | rs80356816 |
| Map | rs80356816 |
| PheGenI | rs80356816 |
| Biobank | rs80356816 |
| 1000 genomes | rs80356816 |
| hgdp | rs80356816 |
| ensembl | rs80356816 |
| geneview | rs80356816 |
| scholar | rs80356816 |
| rs80356816 | |
| pharmgkb | rs80356816 |
| gwascentral | rs80356816 |
| openSNP | rs80356816 |
| 23andMe | rs80356816 |
| SNPshot | rs80356816 |
| SNPdbe | rs80356816 |
| MSV3d | rs80356816 |
| GWAS Ctlg | rs80356816 |
| Status | Merged into rs61126080 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs80356816(G;G) |
| Significance | Pathogenic |
| Disease | Epidermolysis Bullosa Simplex |
| Variation | info |
| Gene | KRT5 |
| CLNDBN | Epidermolysis Bullosa Simplex |
| Reversed | 1 |
| HGVS | NC_000012.11:g.52908850delC |
| CLNSRC | OMIM Allelic Variant GeneReviews |
| CLNACC | SCV000036026.1, SCV000036026.1, SCV000040663.1, SCV000040663.1, |
[PMID 12925204] A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.
[PMID 15324323] Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.
