rs281875328
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs281875328(C;T) |
| Make rs281875328(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 81511230 |
| Gene | ACTG1, FSCN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281875328 |
| dbSNP (classic) | rs281875328 |
| ClinGen | rs281875328 |
| ebi | rs281875328 |
| HLI | rs281875328 |
| Exac | rs281875328 |
| Gnomad | rs281875328 |
| Varsome | rs281875328 |
| LitVar | rs281875328 |
| Map | rs281875328 |
| PheGenI | rs281875328 |
| Biobank | rs281875328 |
| 1000 genomes | rs281875328 |
| hgdp | rs281875328 |
| ensembl | rs281875328 |
| geneview | rs281875328 |
| scholar | rs281875328 |
| rs281875328 | |
| pharmgkb | rs281875328 |
| gwascentral | rs281875328 |
| openSNP | rs281875328 |
| 23andMe | rs281875328 |
| SNPshot | rs281875328 |
| SNPdbe | rs281875328 |
| MSV3d | rs281875328 |
| GWAS Ctlg | rs281875328 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281875328(A;A) rs281875328(T;T) |
| Alt | rs281875328(A;A) rs281875328(T;T) |
| Reference | Rs281875328(C;C) |
| Significance | Pathogenic |
| Disease | Baraitser-Winter Syndrome 2 not provided |
| Variation | info |
| Gene | ACTG1 |
| CLNDBN | Baraitser-Winter Syndrome 2 not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.79478256G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000022426.28, RCV000059729.1, |
[PMID 22366783
] De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
