| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
8.2
|
Rett Syndrome (predicted)
|
MECP2 Rett syndrome mutation; c.808C>T, C808T, p.Arg270Ter, R270X
| ClinVar
|
| Risk
|
rs61750240(G;G) rs61750240(T;T) |
| Alt
|
rs61750240(G;G) rs61750240(T;T) |
| Reference
|
Rs61750240(C;C) |
| Significance |
Pathogenic |
| Disease |
Rett syndrome not provided Encephalopathy Severe neonatal-onset encephalopathy with microcephaly Mental retardation Angelman syndrome |
| Variation | info |
|---|
| Gene |
MECP2 |
| CLNDBN |
Rett syndrome not provided Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation, X-linked, syndromic 13 Angelman syndrome |
| Reversed |
1 |
| HGVS |
NC_000023.10:g.153296471G>A; NC_000023.10:g.153296471G>C |
| CLNSRC |
HGMD OMIM Allelic Variant |
| CLNACC |
RCV000012586.23, RCV000081212.8, RCV000146359.1, RCV000169940.1, RCV000178231.1, RCV000459645.1, RCV000133242.1, |
[PMID 17387578] Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
