rs28934904
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 8.2 | Rett Syndrome (predicted) |
| (G;G) | 0 |
| Make rs28934904(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154031431 |
| Gene | MECP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28934904 |
| dbSNP (classic) | rs28934904 |
| ClinGen | rs28934904 |
| ebi | rs28934904 |
| HLI | rs28934904 |
| Exac | rs28934904 |
| Gnomad | rs28934904 |
| Varsome | rs28934904 |
| LitVar | rs28934904 |
| Map | rs28934904 |
| PheGenI | rs28934904 |
| Biobank | rs28934904 |
| 1000 genomes | rs28934904 |
| hgdp | rs28934904 |
| ensembl | rs28934904 |
| geneview | rs28934904 |
| scholar | rs28934904 |
| rs28934904 | |
| pharmgkb | rs28934904 |
| gwascentral | rs28934904 |
| openSNP | rs28934904 |
| 23andMe | rs28934904 |
| SNPshot | rs28934904 |
| SNPdbe | rs28934904 |
| MSV3d | rs28934904 |
| GWAS Ctlg | rs28934904 |
| Max Magnitude | 8.2 |
rs28934904, also known as c.397C>T, C397T, p.Arg133Cys and R133C, represents a variant in the MECP2 gene on the X chromosome.
| ClinVar | |
|---|---|
| Risk | Rs28934904(G;G) rs28934904(T;T) |
| Alt | Rs28934904(G;G) rs28934904(T;T) |
| Reference | Rs28934904(C;C) |
| Significance | Pathogenic |
| Disease | Rett syndrome Rett syndrome not provided Angelman syndrome Mental retardation not specified |
| Variation | info |
| Gene | MECP2 |
| CLNDBN | Rett syndrome, zappella variant Rett syndrome not provided Angelman syndrome Mental retardation, X-linked, syndromic 13 not specified |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153296882G>A; NC_000023.10:g.153296882G>C |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012578.23, RCV000030666.26, RCV000081202.7, RCV000169934.1, RCV000170107.2, RCV000445570.1, RCV000460141.1, RCV000133091.2, |
[PMID 17387578] Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
[PMID 10508514] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
[PMID 12746406
] Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
[PMID 18332345] Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
[PMID 18562141] Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).
