rs28934906
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
rs28934906
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
rs28934906
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
rs28934906
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
|
17089071 |
2007 |
rs28934906
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prenatal diagnosis in Rett syndrome.
|
12065946 |
2003 |
rs28934906
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Chronic osteomyelitis in patients with sickle cell disease.
|
10944834 |
2000 |
rs28934908
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The p.Ala140Val mutation is recurrent, as it was already described in 4 families with X-linked mental retardation and in three sporadic male patients with intellectual disability.
|
27465203 |
2016 |
rs28934908
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In this study, DNA samples from 363 male individuals with syndromic and non-syndromic mental retardation</span> and other psychiatric diseases were screened for A140V (419C>T) mutation in the MECP2 gene, considered the most frequent MECP2 mutation in males.
|
15814190 |
2005 |
rs28934908
|
|
|
0.050 |
GeneticVariation |
BEFREE |
This strongly suggests that A140V is a hot spot of mutation resulting in moderate to severe MR in males.
|
11885030 |
2002 |
rs28934908
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
|
12325019 |
2002 |
rs28934908
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation.
|
11805248 |
2002 |
rs61748420
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Targeted next-generation sequencing of a panel of intellectual disability related genes was performed on two unrelated male patients, and two missense variants in MECP2 were identified (p.Gly185Val and p.Arg167Trp).
|
26490184 |
2016 |
rs61748420
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28.
|
11309367 |
2001 |
rs61751367
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
|
26936630 |
2016 |
rs61751444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
|
26936630 |
2016 |
rs267608383
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the identification of the mutation p.P405L in a 19-year-old Brazilian male with mental retardation.
|
18678449 |
2009 |
rs267608402
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the identification of the mutation p.P405L in a 19-year-old Brazilian male with mental retardation.
|
18678449 |
2009 |
rs61753016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the identification of the mutation p.P405L in a 19-year-old Brazilian male with mental retardation.
|
18678449 |
2009 |
rs61749735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found six polymorphisms (three novel, three previously reported) in 10 patients, one novel unclassified silent change (p.V222V) in a man, and one causative mutation in a girl with MR. Once this case was clinically reviewed, the girl presented symptoms of atypical RTT.
|
16879196 |
2006 |
rs28934904
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mother exhibited slight mental retardation and was a carrier for R133C.
|
16122633 |
2005 |
rs61748392
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28.
|
11309367 |
2001 |