|
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 |
|
rs779270933
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.
|
29326875 |
2018 |
|
rs779270933
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
|
12124992 |
2002 |
|
rs779270933
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cystathionine beta-synthase mutations in homocystinuria.
|
10338090 |
1999 |
|
rs778220779
|
|
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 |
|
rs778220779
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
|
22267502 |
2012 |
|
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 |
|
rs775351239
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
|
21520339 |
2011 |
|
rs771298943
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
|
24211323 |
2014 |
|
rs771298943
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
|
22267502 |
2012 |
|
rs771298943
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
|
16307898 |
2006 |
|
rs771298943
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular neonatal screening for homocystinuria in the Qatari population.
|
19370759 |
2009 |