rs104886274
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs104886274(G;T) |
| Make rs104886274(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 108686112 |
| Gene | COL4A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104886274 |
| dbSNP (classic) | rs104886274 |
| ClinGen | rs104886274 |
| ebi | rs104886274 |
| HLI | rs104886274 |
| Exac | rs104886274 |
| Gnomad | rs104886274 |
| Varsome | rs104886274 |
| LitVar | rs104886274 |
| Map | rs104886274 |
| PheGenI | rs104886274 |
| Biobank | rs104886274 |
| 1000 genomes | rs104886274 |
| hgdp | rs104886274 |
| ensembl | rs104886274 |
| geneview | rs104886274 |
| scholar | rs104886274 |
| rs104886274 | |
| pharmgkb | rs104886274 |
| gwascentral | rs104886274 |
| openSNP | rs104886274 |
| 23andMe | rs104886274 |
| SNPshot | rs104886274 |
| SNPdbe | rs104886274 |
| MSV3d | rs104886274 |
| GWAS Ctlg | rs104886274 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104886274(A;A) rs104886274(C;C) rs104886274(T;T) |
| Alt | rs104886274(A;A) rs104886274(C;C) rs104886274(T;T) |
| Reference | Rs104886274(G;G) |
| Significance | Pathogenic |
| Disease | Alport syndrome |
| Variation | info |
| Gene | COL4A5 |
| CLNDBN | Alport syndrome, X-linked recessive |
| Reversed | 0 |
| HGVS | NC_000023.10:g.107929342G>C; NC_000023.10:g.107929342G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000032085.1, RCV000021603.1, |
[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.
[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
[PMID 21505094] Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.
