rs57520892
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a mandibuloacral dysplasia mutation |
| (C;C) | 5 | |
| (C;G) | 6 | Emery-Dreifuss muscular dystrophy (predicted) |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156137204 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs57520892 |
| dbSNP (classic) | rs57520892 |
| ClinGen | rs57520892 |
| ebi | rs57520892 |
| HLI | rs57520892 |
| Exac | rs57520892 |
| Gnomad | rs57520892 |
| Varsome | rs57520892 |
| LitVar | rs57520892 |
| Map | rs57520892 |
| PheGenI | rs57520892 |
| Biobank | rs57520892 |
| 1000 genomes | rs57520892 |
| hgdp | rs57520892 |
| ensembl | rs57520892 |
| geneview | rs57520892 |
| scholar | rs57520892 |
| rs57520892 | |
| pharmgkb | rs57520892 |
| gwascentral | rs57520892 |
| openSNP | rs57520892 |
| 23andMe | rs57520892 |
| SNPshot | rs57520892 |
| SNPdbe | rs57520892 |
| MSV3d | rs57520892 |
| GWAS Ctlg | rs57520892 |
| Max Magnitude | 6 |
aka c.1580G>A (p.Arg527His or R527H) and also c.1580G>C (p.Arg527Pro or R527P); both are considered pathogenic in ClinVar.
However, the p.Arg527Pro mutation is considered to lead to early-onset, autosomal dominant Emery-Dreifuss muscular dystrophy, whereas the p.Arg527His mutation is considered to lead to recessively inherited mandibuloacral dysplasia (with type A lipdystrophy), based on links in ClinVar and OMIM.
| ClinVar | |
|---|---|
| Risk | rs57520892(A;A) Rs57520892(C;C) |
| Alt | rs57520892(A;A) Rs57520892(C;C) |
| Reference | Rs57520892(G;G) |
| Significance | Pathogenic |
| Disease | Mandibuloacral dysostosis Mandibuloacral dysplasia with type A lipodystrophy not provided Mandibuloacral dysplasia Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy 2 |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Mandibuloacral dysostosis Mandibuloacral dysplasia with type A lipodystrophy, atypical not provided Mandibuloacral dysplasia Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156106995G>A; NC_000001.10:g.156106995G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015591.26, RCV000015592.26, RCV000057326.4, RCV000148607.1, RCV000015569.25, RCV000015570.21, RCV000057327.1, |
The R527P mutation is one of the mutations described at
