rs80338756
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs80338756(C;T) |
| Make rs80338756(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 143924012 |
| Gene | PLEC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338756 |
| dbSNP (classic) | rs80338756 |
| ClinGen | rs80338756 |
| ebi | rs80338756 |
| HLI | rs80338756 |
| Exac | rs80338756 |
| Gnomad | rs80338756 |
| Varsome | rs80338756 |
| LitVar | rs80338756 |
| Map | rs80338756 |
| PheGenI | rs80338756 |
| Biobank | rs80338756 |
| 1000 genomes | rs80338756 |
| hgdp | rs80338756 |
| ensembl | rs80338756 |
| geneview | rs80338756 |
| scholar | rs80338756 |
| rs80338756 | |
| pharmgkb | rs80338756 |
| gwascentral | rs80338756 |
| openSNP | rs80338756 |
| 23andMe | rs80338756 |
| SNPshot | rs80338756 |
| SNPdbe | rs80338756 |
| MSV3d | rs80338756 |
| GWAS Ctlg | rs80338756 |
| Max Magnitude | 0 |
[PMID 11851880] A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.
[PMID 15206692] Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.
| ClinVar | |
|---|---|
| Risk | rs80338756(A;A) rs80338756(T;T) |
| Alt | rs80338756(A;A) rs80338756(T;T) |
| Reference | Rs80338756(C;C) |
| Significance | Pathogenic |
| Disease | Epidermolysis bullosa simplex |
| Variation | info |
| Gene | PLEC |
| CLNDBN | Epidermolysis bullosa simplex, Ogna type |
| Reversed | 1 |
| HGVS | NC_000008.10:g.144998180G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008751.6, |
