rs28934908
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs28934908(C;T) |
| Make rs28934908(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154031409 |
| Gene | MECP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28934908 |
| dbSNP (classic) | rs28934908 |
| ClinGen | rs28934908 |
| ebi | rs28934908 |
| HLI | rs28934908 |
| Exac | rs28934908 |
| Gnomad | rs28934908 |
| Varsome | rs28934908 |
| LitVar | rs28934908 |
| Map | rs28934908 |
| PheGenI | rs28934908 |
| Biobank | rs28934908 |
| 1000 genomes | rs28934908 |
| hgdp | rs28934908 |
| ensembl | rs28934908 |
| geneview | rs28934908 |
| scholar | rs28934908 |
| rs28934908 | |
| pharmgkb | rs28934908 |
| gwascentral | rs28934908 |
| openSNP | rs28934908 |
| 23andMe | rs28934908 |
| SNPshot | rs28934908 |
| SNPdbe | rs28934908 |
| MSV3d | rs28934908 |
| GWAS Ctlg | rs28934908 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28934908(A;A) rs28934908(T;T) |
| Alt | rs28934908(A;A) rs28934908(T;T) |
| Reference | Rs28934908(C;C) |
| Significance | Other |
| Disease | Mental retardation Rett syndrome not provided Downslanted palpebral fissures Hearing impairment Intellectual disability Microcephaly Micrognathia Motor delay Postnatal growth retardation Stenosis of the external auditory canal |
| Variation | info |
| Gene | MECP2 |
| CLNDBN | Mental retardation, X-linked, syndromic 13 Rett syndrome not provided Downslanted palpebral fissures Hearing impairment Intellectual disability Microcephaly Micrognathia Motor delay Postnatal growth retardation Stenosis of the external auditory canal |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153296860G>A |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012596.30, RCV000020628.5, RCV000224266.1, RCV000414791.1, |
[PMID 12325] Design of a standard protocol for the challenge testing of antimicrobial preservative solutions [proceedings].
[PMID 11007980] MECP2 mutation in male patients with non-specific X-linked mental retardation.
[PMID 11309367] MECP2 is highly mutated in X-linked mental retardation.
[PMID 11772708] MECP2 mutation in a boy with language disorder and schizophrenia.
[PMID 11805248] A Rett syndrome MECP2 mutation that causes mental retardation in men.
[PMID 11885030
] A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
