rs199474750
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach.
|
29804243 |
2018 |
rs137854552
|
|
|
0.730 |
GeneticVariation |
BEFREE |
This is the first report, which states that the R1947X mutation of NF1 may be one of reasons for neurofibromatosis type 1 in Chinese population.
|
18407053 |
2008 |
rs137854552
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1.
|
16117786 |
2005 |
rs137854552
|
|
|
0.730 |
GeneticVariation |
BEFREE |
To estimate its frequency in NF1, we employed a PCR-restriction digestion method to examine 17 CpGs in 65 patients, and also screened for a CpG nonsense transition (R1947X) that occurs in 1-2% of patients.
|
10336779 |
1998 |
rs137854562
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We report here that a child with this form of NF1 displays a heterozygous NF1 gene mutation (c.3721C>T), in addition to a homozygous MLH1 gene mutation (c.676C>T) leading to a truncated MLH1 protein (p.R226X).
|
17889038 |
2008 |
rs137854562
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Three members of a Portuguese family, who exhibited clinical evidence of neurofibromatosis type 1 (NF1), were found to possess different heritable and pathological mutations in their NF1 genes: a 1.5-Mb deletion spanning the entire NF1 gene, a truncating CGA-->TGA transition in exon 22 (R1241X), and a frameshift mutation in exon 29 (5406insT).
|
12483293 |
2003 |
rs760703505
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A heterozygous novel germline nonsense mutation (p.Arg1534*) in exon 35 of the NF1 gene was detected from peripheral leukocytes, which results in a truncated protein lacking the critical domain for GTPase activity, strongly suggesting its causal role in NF1.
|
31189769 |
2019 |
rs1060500368
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We demonstrate that the human nonsense NF1(Arg681*) and missense NF1(Gly848Arg) mutations have different effects on neurofibromin expression in the mouse and each recapitulates unique aspects of the NF1 phenotype, depending upon the genetic context when assessed in the homozygous state or when paired with a conditional knockout allele.
|
27482814 |
2016 |
rs768638173
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Of the ten reported cases of NF1 due to R681X, one has presented with optic glioma and none with precocious puberty.
|
26666878 |
2015 |
rs797045139
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Our finding and revision of the literature consistently indicate that the c.5425C>T change is associated with a distinctive, mild form of NF1, providing new data with direct impact on genetic counseling and patient management.
|
25370043 |
2015 |
rs772295894
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we describe two truncating mutations in exon 37 of NF1, the recurrent c.6792C>A and the novel c.6799C>T change, that occur in cis and segregate with NF1 in a large family.
|
22925204 |
2013 |
rs866445127
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.
|
22965773 |
2012 |
rs786202112
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Neurofibromatosis in this patient was transmitted by the boy's farther who carried the mutation NF1 c. 5546 G/A.
|
16961930 |
2006 |
rs886041347
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The genetic analysis of our patient revealed neither mutation in the neurofibromatosis 1-guanosine triphosphatase-activating protein-related domain nor the R816X nonsense mutation.
|
12661943 |
2003 |
rs1801052
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported a novel de novo c.6817delC deletion and rs1801052 polymorphism in NF1 gene associated with NF1 symptoms, as well as numerous polymorphisms in SPG7, SPG15, SPG39 genes responsible for benign spastic paraplegia.
|
31048186 |
2019 |
rs768366978
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.
|
22965773 |
2012 |
rs777369021
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study we investigated the expression of exon 7 transcripts using bioinformatic identification of splicing regulatory sequences, and functional minigene analysis of four sequence changes [c.910C>T (R304X), c.945G>A/c.946C>A (Q315Q/L316M), c.1005T>C (N335N)] identified in exon 7 of three different NF1 patients.
|
17295913 |
2007 |
rs137854561
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was found, and, in the second, a splice-site mutation (IVS31-5A-->G) enlarging exon 32 by 4 bp at the 5' end was found.
|
11704931 |
2001 |