rs80359857
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AG;AG) | 0 | common in clinvar |
| Make rs80359857(-;-) |
| Make rs80359857(-;AG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 27780191 |
| Gene | ESCO2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359857 |
| dbSNP (classic) | rs80359857 |
| ClinGen | rs80359857 |
| ebi | rs80359857 |
| HLI | rs80359857 |
| Exac | rs80359857 |
| Gnomad | rs80359857 |
| Varsome | rs80359857 |
| LitVar | rs80359857 |
| Map | rs80359857 |
| PheGenI | rs80359857 |
| Biobank | rs80359857 |
| 1000 genomes | rs80359857 |
| hgdp | rs80359857 |
| ensembl | rs80359857 |
| geneview | rs80359857 |
| scholar | rs80359857 |
| rs80359857 | |
| pharmgkb | rs80359857 |
| gwascentral | rs80359857 |
| openSNP | rs80359857 |
| 23andMe | rs80359857 |
| SNPshot | rs80359857 |
| SNPdbe | rs80359857 |
| MSV3d | rs80359857 |
| GWAS Ctlg | rs80359857 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80359857(-;-) |
| Alt | rs80359857(-;-) |
| Reference | Rs80359857(AG;AG) |
| Significance | Pathogenic |
| Disease | Roberts-SC phocomelia syndrome |
| Variation | info |
| Gene | ESCO2 |
| CLNDBN | Roberts-SC phocomelia syndrome |
| Reversed | 0 |
| HGVS | NC_000008.10:g.27637708_27637709delAG |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020413.1, |
[PMID 15821733] Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
[PMID 18186147] Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
[PMID 18411254] The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
