rs78972735
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs78972735(G;T) |
| Make rs78972735(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 108622766 |
| Gene | COL4A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78972735 |
| dbSNP (classic) | rs78972735 |
| ClinGen | rs78972735 |
| ebi | rs78972735 |
| HLI | rs78972735 |
| Exac | rs78972735 |
| Gnomad | rs78972735 |
| Varsome | rs78972735 |
| LitVar | rs78972735 |
| Map | rs78972735 |
| PheGenI | rs78972735 |
| Biobank | rs78972735 |
| 1000 genomes | rs78972735 |
| hgdp | rs78972735 |
| ensembl | rs78972735 |
| geneview | rs78972735 |
| scholar | rs78972735 |
| rs78972735 | |
| pharmgkb | rs78972735 |
| gwascentral | rs78972735 |
| openSNP | rs78972735 |
| 23andMe | rs78972735 |
| SNPshot | rs78972735 |
| SNPdbe | rs78972735 |
| MSV3d | rs78972735 |
| GWAS Ctlg | rs78972735 |
| GMAF | 0.003023 |
| Max Magnitude | 0 |
aka c.2858G>T (p.Gly953Val or G953V)
Originally the c.2858G>T mutation in the COL4A5 gene was considered disease causing, but it was only reported in four Alport patients, and in all of them, additional pathogenic mutations in the COL4A5 or COL4A4 genes were also detected. A 2019 study in Chinese families concluded that this mutation was actually not a pathogenic variant for X-linked Alport syndrome, although they couldn't rule out that when present it modifies disease progression.[PMID 31576025
]
| ClinVar | |
|---|---|
| Risk | rs78972735(T;T) |
| Alt | rs78972735(T;T) |
| Reference | Rs78972735(G;G) |
| Significance | Other |
| Disease | Alport syndrome |
| Variation | info |
| Gene | COL4A5 |
| CLNDBN | Alport syndrome, X-linked recessive |
| Reversed | 0 |
| HGVS | NC_000023.10:g.107865996G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000021452.1, |
[PMID 8940267] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
