rs863225079
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 8 | Neurodevelopmental disorder-associated mutation |
| (G;G) | 0 | common in clinvar |
| Make rs863225079(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 6 |
| Position | 43007271 |
| Gene | MEA1, PPP2R5D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863225079 |
| dbSNP (classic) | rs863225079 |
| ClinGen | rs863225079 |
| ebi | rs863225079 |
| HLI | rs863225079 |
| Exac | rs863225079 |
| Gnomad | rs863225079 |
| Varsome | rs863225079 |
| LitVar | rs863225079 |
| Map | rs863225079 |
| PheGenI | rs863225079 |
| Biobank | rs863225079 |
| 1000 genomes | rs863225079 |
| hgdp | rs863225079 |
| ensembl | rs863225079 |
| geneview | rs863225079 |
| scholar | rs863225079 |
| rs863225079 | |
| pharmgkb | rs863225079 |
| gwascentral | rs863225079 |
| openSNP | rs863225079 |
| 23andMe | rs863225079 |
| SNPshot | rs863225079 |
| SNPdbe | rs863225079 |
| MSV3d | rs863225079 |
| GWAS Ctlg | rs863225079 |
| Max Magnitude | 8 |
PPP2R5D gene, aka c.598G>A, p.Glu200Lys and E200K
Considered to be a de novo (dominant) missense variant associated with intellectual disability, macrocephaly, hypotonia, and autism; see ClinVar and [PMID 26576547
] as well as links on PPP2R5D page
| ClinVar | |
|---|---|
| Risk | rs863225079(A;A) |
| Alt | rs863225079(A;A) |
| Reference | Rs863225079(G;G) |
| Significance | Pathogenic |
| Disease | Mental retardation not provided |
| Variation | info |
| Gene | PPP2R5D MEA1 |
| CLNDBN | Mental retardation, autosomal dominant 35 not provided |
| Reversed | 0 |
| HGVS | NC_000006.11:g.42975009G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000201454.1, RCV000202069.1, |
