rs267607048
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
|
22528146 |
2012 |
rs28934906
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
rs267607048
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
|
19684605 |
2009 |
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 |
rs80338796
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |
rs80338796
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
rs180177035
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
rs180177035
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |
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 |
rs142698837
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554032789
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
rs121918368
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The nonsense mutation, R419X, causes deletion of 24 amino acids at the C-terminus of CRBN, leading to mild ID.
|
26188093 |
2015 |
rs121918368
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We also show that the level of the mutant protein can be restored by a treatment of cells with a clinically utilized proteasome inhibitor, suggesting that this agent may be useful for the treatment of mental retardation associated with the CRBN R419X mutation.
|
23983124 |
2013 |
rs121918368
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation.
|
18414909 |
2008 |
rs121434613
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These mutations include two "severe" G424R and K389N variants (responsible for severe ID and CCA) and the "mild" A365E variant (responsible for nonsyndromic mild ID).
|
31843706 |
2020 |
rs745756308
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Leucine 208 in human histamine N-methyltransferase emerges as a hotspot for protein stability rationalizing the role of the L208P variant in intellectual disability.
|
27769936 |
2017 |
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 |