rs61749738
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free.
|
27062609 |
2017 |
rs267608595
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient.
|
26755454 |
2016 |
rs63390262
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient.
|
26755454 |
2016 |
rs782460882
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient.
|
26755454 |
2016 |
rs267608563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient.
|
21940684 |
2012 |
rs61749720
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism.
|
20098342 |
2010 |
rs267608597
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first one, the double nucleotide substitution c.1162_1163delinsTA leading to a premature stop codon (p.Pro388X) was found in a female patient with random X-inactivation, presenting with borderline mental impairment without any features of Rett syndrome.
|
17383248 |
2007 |
rs61748381
|
|
|
0.010 |
GeneticVariation |
BEFREE |
L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies.
|
16672765 |
2006 |
rs61748395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutation (p.Y141C) lies within the methyl-binding domain, and has only been reported once in another atypical RTT.
|
16879196 |
2006 |
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 |
rs61748391
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs61748406
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs61748407
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs61748417
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs61749730
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs61751373
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs61751441
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs61751450
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs61753000
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs267608465
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Brief report: systematic review of Rett syndrome in males.
|
26254891 |
2015 |
rs61748391
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs61748406
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs61748407
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs61748417
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs61749730
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |