rs121912854
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
| Make rs121912854(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 48592915 |
| Gene | COL7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912854 |
| dbSNP (classic) | rs121912854 |
| ClinGen | rs121912854 |
| ebi | rs121912854 |
| HLI | rs121912854 |
| Exac | rs121912854 |
| Gnomad | rs121912854 |
| Varsome | rs121912854 |
| LitVar | rs121912854 |
| Map | rs121912854 |
| PheGenI | rs121912854 |
| Biobank | rs121912854 |
| 1000 genomes | rs121912854 |
| hgdp | rs121912854 |
| ensembl | rs121912854 |
| geneview | rs121912854 |
| scholar | rs121912854 |
| rs121912854 | |
| pharmgkb | rs121912854 |
| gwascentral | rs121912854 |
| openSNP | rs121912854 |
| 23andMe | rs121912854 |
| SNPshot | rs121912854 |
| SNPdbe | rs121912854 |
| MSV3d | rs121912854 |
| GWAS Ctlg | rs121912854 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs121912854(T;T) |
| Alt | rs121912854(T;T) |
| Reference | Rs121912854(C;C) |
| Significance | Pathogenic |
| Disease | Epidermolysis bullosa dystrophica inversa Recessive dystrophic epidermolysis bullosa Abnormal blistering of the skin Abnormality of dental enamel Abnormality of the teeth Alopecia of scalp Decreased body weight Distal muscle weakness EMG abnormality Failure to thrive Hyperpigmentation of the skin Microcephaly Nail dystrophy Scarring Scarring alopecia of scalp Short stature |
| Variation | info |
| Gene | COL7A1 |
| CLNDBN | Epidermolysis bullosa dystrophica inversa, autosomal recessive Recessive dystrophic epidermolysis bullosa Abnormal blistering of the skin Abnormality of dental enamel Abnormality of the teeth Alopecia of scalp Decreased body weight Distal muscle weakness EMG abnormality Failure to thrive Hyperpigmentation of the skin Microcephaly Nail dystrophy Scarring Scarring alopecia of scalp Short stature |
| Reversed | 1 |
| HGVS | NC_000003.11:g.48630348G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019013.29, RCV000019014.29, RCV000415442.1, |
[PMID 8037207
] Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.
