rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC).
|
25985877 |
2015 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.
|
24441663 |
2014 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
|
23612258 |
2013 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Fumarase deficiency in dichorionic diamniotic twins.
|
24182348 |
2013 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
|
22703879 |
2012 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
|
21630274 |
2011 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical and biochemical heterogeneity associated with fumarase deficiency.
|
21560188 |
2011 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
|
18366737 |
2008 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
|
16639410 |
2006 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular and biochemical investigations in fumarase deficiency.
|
16510303 |
2006 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.
|
15987702 |
2005 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Fumarase deficiency presenting with periventricular cysts.
|
16151915 |
2005 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
|
12761039 |
2003 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
|
11865300 |
2002 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular analysis and prenatal diagnosis of human fumarase deficiency.
|
9635293 |
1998 |
rs367543046
|
|
Neoplastic Syndromes, Hereditary
|
ATTT |
0.700 |
GeneticVariation
|
CLINVAR |
Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.
|
9300800 |
1997 |