Variant: rs121964962 

    present in Gene: CBS
    present in Chromosome: 21
    Position on Chromosome: 43062988
    Alleles of this Variant: C/T

rs121964962 in CBS gene and Cystathionine beta-Synthase Deficiency Disease PMID 20506325 2010 Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

PMID 16205833 2005 Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

PMID 12552044 2003 Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.

PMID 11013450 2000 Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.

PMID 12007221 2002 High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

PMID 15365998 2004 The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.

PMID 11553052 2001 Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.

PMID 14635102 2003 Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

PMID 12815602 2003 Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

PMID 10215408 1998 Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.

PMID 16429402 2006 Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

PMID 15146473 2004 Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

PMID 10462600 1997 Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.

PMID 7981678 1994 Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.

PMID 14722927 2004 The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 7635485 1995 Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.

PMID 23974653 2014 Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

PMID 23733603 2013 Withdrawal of vitamin therapy was necessary before lower cystathionine, elevated methionine, and decreased cysteine became apparent, a pattern suggestive of CBS deficiency, leading to the finding that the affected members were each compound heterozygotes for CBS p.G307S and p.P49L.

PMID 9361025 1997 Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.

PMID 22738154 2012 Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.

PMID 8744616 1996 Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.

PMID 7506602 1993 Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

PMID 8528202 1995 A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.

PMID 21240075 2011 CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.

PMID 7611293 1995 A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

PMID 9889017 1998 Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.

PMID 7581402 1995 High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.

PMID 25044645 2014 Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

PMID 22267502 2012 Surrogate genetics and metabolic profiling for characterization of human disease alleles.

PMID 22069143 2012 Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.

PMID 7849717 1994 Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

rs121964962 in CBS gene and HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID 20506325 2010 Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

PMID 23733603 2013 Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.

PMID 8744616 1996 Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.

PMID 9889017 1998 Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.

PMID 7506602 1993 Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

PMID 22267502 2012 Surrogate genetics and metabolic profiling for characterization of human disease alleles.

PMID 7581402 1995 High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.

rs121964962 in CBS gene and Homocystinuria PMID 14722927 2004 The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

PMID 12124992 2002 The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

PMID 20506325 2010 Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.