rs28935468
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 rs28935468(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154030912 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs28935468 |
dbSNP (classic) | rs28935468 |
ClinGen | rs28935468 |
ebi | rs28935468 |
HLI | rs28935468 |
Exac | rs28935468 |
Gnomad | rs28935468 |
Varsome | rs28935468 |
LitVar | rs28935468 |
Map | rs28935468 |
PheGenI | rs28935468 |
Biobank | rs28935468 |
1000 genomes | rs28935468 |
hgdp | rs28935468 |
ensembl | rs28935468 |
geneview | rs28935468 |
scholar | rs28935468 |
rs28935468 | |
pharmgkb | rs28935468 |
gwascentral | rs28935468 |
openSNP | rs28935468 |
23andMe | rs28935468 |
SNPshot | rs28935468 |
SNPdbe | rs28935468 |
MSV3d | rs28935468 |
GWAS Ctlg | rs28935468 |
Max Magnitude | 8.2 |
MECP2 Rett syndrome mutation; c.916C>T (p.Arg306Cys)
ClinVar | |
---|---|
Risk | rs28935468(T;T) |
Alt | rs28935468(T;T) |
Reference | Rs28935468(C;C) |
Significance | Pathogenic |
Disease | Rett syndrome not provided Mental retardation Angelman syndrome Intellectual disability |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome not provided Mental retardation, X-linked, syndromic 13 Angelman syndrome Intellectual disability |
Reversed | 1 |
HGVS | NC_000023.10:g.153296363G>A |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012597.27, RCV000081218.8, RCV000178232.1, RCV000202468.1, RCV000224156.1, RCV000466020.1, |
[PMID 17387578] Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.