|
rs777919630
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
|
9156316 |
1997 |
|
rs777919630
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
|
22267502 |
2012 |
|
rs1568932835
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Cystathionine beta-synthase mutations in homocystinuria.
|
10338090 |
1999 |
|
rs1568932835
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
|
12124992 |
2002 |
|
rs148865119
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
|
9587029 |
1998 |
|
rs148865119
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
|
25218699 |
2015 |
|
rs148865119
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Vascular and connective tissue features in 5 Italian patients with homocystinuria.
|
18280597 |
2009 |
|
rs148865119
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
|
23733603 |
2013 |
|
rs148865119
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM.
|
22985361 |
2013 |
|
rs148865119
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
|
12124992 |
2002 |
|
rs148865119
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
|
23974653 |
2014 |
|
rs148865119
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
|
21520339 |
2011 |
|
rs794727835
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs786204757
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
|
22267502 |
2012 |
|
rs786204757
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
|
20066033 |
2010 |
|
rs786204757
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
|
12124992 |
2002 |
|
rs786204757
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
|
9889017 |
1998 |
|
rs786204757
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
|
14635102 |
2003 |
|
rs781444670
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
|
21520339 |
2011 |
|
rs781444670
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
|
7849717 |
1994 |
|
rs781444670
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Conformational properties of nine purified cystathionine β-synthase mutants.
|
22612060 |
2012 |
|
rs781444670
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.
|
20308073 |
2010 |
|
rs781444670
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
|
20506325 |
2010 |
|
rs779270933
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
|
22267502 |
2012 |
|
rs779270933
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
|
20506325 |
2010 |