rs121912771
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a junctional Epidermolysis bullosa mutation |
| (G;G) | 0 | common in clinvar |
| Make rs121912771(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 104034193 |
| Gene | COL17A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912771 |
| dbSNP (classic) | rs121912771 |
| ClinGen | rs121912771 |
| ebi | rs121912771 |
| HLI | rs121912771 |
| Exac | rs121912771 |
| Gnomad | rs121912771 |
| Varsome | rs121912771 |
| LitVar | rs121912771 |
| Map | rs121912771 |
| PheGenI | rs121912771 |
| Biobank | rs121912771 |
| 1000 genomes | rs121912771 |
| hgdp | rs121912771 |
| ensembl | rs121912771 |
| geneview | rs121912771 |
| scholar | rs121912771 |
| rs121912771 | |
| pharmgkb | rs121912771 |
| gwascentral | rs121912771 |
| openSNP | rs121912771 |
| 23andMe | rs121912771 |
| SNPshot | rs121912771 |
| SNPdbe | rs121912771 |
| MSV3d | rs121912771 |
| GWAS Ctlg | rs121912771 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
aka c.3908G>A (p.Arg1303Gln or R1303Q)
This COL17A1 mutation is considered to cause late-onset, mild junctional epidermolysis bullosa (JEB), and it is characterized by a weaker collagen XVII connection to another adhesion molecule in the skin, called laminin-332, leading to blistering and thinning skin, based on a 2018 study.[PMID 30316981]
| ClinVar | |
|---|---|
| Risk | rs121912771(A;A) |
| Alt | rs121912771(A;A) |
| Reference | Rs121912771(G;G) |
| Significance | Pathogenic |
| Disease | Epidermolysis bullosa |
| Variation | info |
| Gene | COL17A1 |
| CLNDBN | Epidermolysis bullosa, junctional, localisata variant |
| Reversed | 1 |
| HGVS | NC_000010.10:g.105793951C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019218.29, |
