rs121912839
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
| (G;G) | 0 | common in clinvar |
| Make rs121912839(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 48572712 |
| Gene | COL7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912839 |
| dbSNP (classic) | rs121912839 |
| ClinGen | rs121912839 |
| ebi | rs121912839 |
| HLI | rs121912839 |
| Exac | rs121912839 |
| Gnomad | rs121912839 |
| Varsome | rs121912839 |
| LitVar | rs121912839 |
| Map | rs121912839 |
| PheGenI | rs121912839 |
| Biobank | rs121912839 |
| 1000 genomes | rs121912839 |
| hgdp | rs121912839 |
| ensembl | rs121912839 |
| geneview | rs121912839 |
| scholar | rs121912839 |
| rs121912839 | |
| pharmgkb | rs121912839 |
| gwascentral | rs121912839 |
| openSNP | rs121912839 |
| 23andMe | rs121912839 |
| SNPshot | rs121912839 |
| SNPdbe | rs121912839 |
| MSV3d | rs121912839 |
| GWAS Ctlg | rs121912839 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs121912839(A;A) |
| Alt | rs121912839(A;A) |
| Reference | Rs121912839(G;G) |
| Significance | Pathogenic |
| Disease | Recessive dystrophic epidermolysis bullosa Nail disorder Generalized dominant dystrophic epidermolysis bullosa not provided |
| Variation | info |
| Gene | COL7A1 |
| CLNDBN | Recessive dystrophic epidermolysis bullosa Nail disorder, nonsyndromic congenital, 8 Generalized dominant dystrophic epidermolysis bullosa not provided |
| Reversed | 1 |
| HGVS | NC_000003.11:g.48610145C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018998.28, RCV000022473.28, RCV000408804.1, RCV000439658.1, |
[PMID 10469344] Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.
