ClinVar Genomic variation as it relates to human health
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000071.3(CBS):c.341C>T (p.Ala114Val)
Variation ID: 119 Accession: VCV000000119.31
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 21q22.3 21: 43066353 (GRCh38) [ NCBI UCSC ] 21: 44486463 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 24, 2015 May 1, 2024 Jan 30, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000071.3:c.341C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000062.1:p.Ala114Val missense NM_001178008.3:c.341C>T NP_001171479.1:p.Ala114Val missense NM_001178009.3:c.341C>T NP_001171480.1:p.Ala114Val missense NM_001320298.2:c.341C>T NP_001307227.1:p.Ala114Val missense NM_001321072.1:c.26C>T NP_001308001.1:p.Ala9Val missense NC_000021.9:g.43066353G>A NC_000021.8:g.44486463G>A NG_008938.1:g.14578C>T LRG_777:g.14578C>T LRG_777t1:c.341C>T LRG_777p1:p.Ala114Val P35520:p.Ala114Val - Protein change
- A114V, A9V
- Other names
- p.A114V:GCG>GTG
- Canonical SPDI
- NC_000021.9:43066352:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00020 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00004
1000 Genomes Project 30x 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00019
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00021
Exome Aggregation Consortium (ExAC) 0.00027
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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CBS | - | - |
GRCh38 GRCh37 |
1260 | 1352 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
no assertion criteria provided
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Jun 1, 1993 | RCV000000140.5 | |
Pathogenic/Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Feb 14, 2023 | RCV000200823.12 | |
Pathogenic/Likely pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Oct 15, 2020 | RCV000490533.19 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 26, 2016 | RCV000590659.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 30, 2024 | RCV002227956.5 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 4, 2022 | RCV002453244.5 | |
CBS-related condition
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Pathogenic (1) |
criteria provided, single submitter
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Dec 24, 2023 | RCV003952330.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Dec 03, 2017)
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criteria provided, single submitter
Method: clinical testing
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HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Affected status: unknown
Allele origin:
inherited
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV000746328.1
First in ClinVar: May 25, 2017 Last updated: May 25, 2017 |
Age: 20-29 years
Sex: female
Geographic origin: Iran
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Pathogenic
(Dec 24, 2023)
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criteria provided, single submitter
Method: clinical testing
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CBS-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004773517.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The CBS c.341C>T variant is predicted to result in the amino acid substitution p.Ala114Val. This variant has been reported in the homozygous state and the … (more)
The CBS c.341C>T variant is predicted to result in the amino acid substitution p.Ala114Val. This variant has been reported in the homozygous state and the heterozygous state (along with a second causative variant) in individuals with pyridoxine-responsive homocystinuria (Kozich et al. 1993. PubMed ID: 8353501; Reuter et al. 2017. PubMed ID: 28097321, eTable 1 and 2). Experimental studies using recombinant bacterial systems suggest that this variant leads to mild protein unfolding, mild protein instability, and reduced enzymatic activity (Kozich et al. 2010. PubMed ID: 20506325, Table 1; Hnízda et al. 2011. PubMed ID: 22069143; Hnízda et al. 2012. PubMed ID: 22612060). This variant is reported in 0.036% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic. (less)
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Likely pathogenic
(Mar 18, 2016)
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criteria provided, single submitter
Method: reference population
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Classic homocystinuria
Affected status: unknown
Allele origin:
germline
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Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
Accession: SCV000267240.1
First in ClinVar: May 25, 2017 Last updated: May 25, 2017 |
Number of individuals with the variant: 1
Age: 40-69 years
Ethnicity/Population group: East Asian
Geographic origin: South Korean
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Likely pathogenic
(Mar 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Classic homocystinuria
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000678069.1
First in ClinVar: May 25, 2017 Last updated: May 25, 2017 |
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Pathogenic
(Jan 26, 2016)
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criteria provided, single submitter
Method: clinical testing
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Homocystinuria
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695305.1
First in ClinVar: Mar 20, 2018 Last updated: Mar 20, 2018 |
Comment:
Variant summary: The c.341C>T in CBS gene is a missense variant that involves a highly conserved nucleotide and 4/5 in silico tools predict deleterious outcome. … (more)
Variant summary: The c.341C>T in CBS gene is a missense variant that involves a highly conserved nucleotide and 4/5 in silico tools predict deleterious outcome. The variant was observed in the large and broad cohorts of the ExAC ans ESP projects at an allele frequency of 0.027%. This frequency does not exceed the maximal expected allele frequency for a pathogenic variant in CBS (0.3%).suggesting this variant is not a common polymorphism. The variant has been reported in several affected individuals presented with features suggestive of Cystathionine--synthase deficiency. Functional studies performed in bacteria-based system showed slight misfolding of the recombinant protein and low enzymatic activity. The variant of interest has been reported as Pathogenic by several reputable databases/diagnostic centers.Taking together, the variant was classified as Pathogenic. (less)
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Classic homocystinuria
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893556.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(Mar 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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Classic homocystinuria
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
biparental
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001443030.1
First in ClinVar: Nov 14, 2020 Last updated: Nov 14, 2020 |
Comment:
Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PS3,PS4_moderate,PM2,PM3,PP3
Clinical Features:
severe ID (present) , muscular hypotonia (present) , bruxism (present) , abnormalities of the face (present) , impaired vision (present) , microphthalmos (present) , nystagmus … (more)
severe ID (present) , muscular hypotonia (present) , bruxism (present) , abnormalities of the face (present) , impaired vision (present) , microphthalmos (present) , nystagmus (present) , cerebral atrophy (present) , leukodystrophy (present) (less)
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001448148.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Dystonic disorder (present) , Paroxysmal dyskinesia (present)
Sex: male
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Pathogenic
(Aug 16, 2019)
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criteria provided, single submitter
Method: clinical testing
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Classic homocystinuria
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001369940.2
First in ClinVar: Jul 04, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PM5.
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Likely pathogenic
(Sep 11, 2020)
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criteria provided, single submitter
Method: clinical testing
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Classic homocystinuria
Affected status: yes
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001524388.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
Comment:
This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
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Pathogenic
(May 21, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713878.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Comment:
PS3, PS4_moderate, PM3_verystrong, PP3, PP4
Number of individuals with the variant: 1
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Pathogenic
(Oct 15, 2020)
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criteria provided, single submitter
Method: clinical testing
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Classic homocystinuria
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002769356.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.3, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.3, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with B6-responsive and non-responsive types homocystinuria, and hyperhomocysteinemic thrombosis (MIM#236200). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from alanine to valine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (61 heterozygotes, 0 homozygotes). (SP) 0309 - Alternative amino acid changes at the same position have been observed in gnomAD (v2) (3 heterozygotes, 0 homozygotes). (I) 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. (I) 0600 - Variant is located in the annotated PALP domain (PDB). (I) 0704 - Another missense variant comparable to the one identified in this case has limited previous evidence for pathogenicity. An alternative change at the same residue (p.Ala114Thr) has been reported as likely pathogenic (ClinVar). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported as pathogenic multiple times, in patients with homocystinuria (ClinVar, LOVD, PMID: 32232970). (SP) 1002 - This variant has moderate functional evidence supporting abnormal protein function. This variant has been proven to have mild effects on function, reducing enzyme activity, tetramer formation and protein instability (PMID: 22069143). (SP) 1206 - This variant has been shown to be paternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Likely pathogenic
(Jan 14, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000249676.16
First in ClinVar: Oct 11, 2015 Last updated: Mar 04, 2023 |
Comment:
Published functional studies have shown A114V leads to protein misfolding and instability compared to wild-type alleles (Kozich et al., 2010; Hznida et al., 2012); In … (more)
Published functional studies have shown A114V leads to protein misfolding and instability compared to wild-type alleles (Kozich et al., 2010; Hznida et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22612060, 7967489, 22267502, 22985361, 25331909, 22069143, 20308073, 14722927, 10408774, 8353501, 28097321, 25087612, 12686134, 20506325, 20490928, 11748855, 20066033, 16307898, 16479318, 7762555, 31589614, 11359213) (less)
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Pathogenic
(Feb 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV004026264.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
Comment:
PM3, PS3, PP3, PS4, PM2_SUP
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Pathogenic
(Jan 30, 2024)
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criteria provided, single submitter
Method: clinical testing
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HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000956328.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 114 of the CBS protein (p.Ala114Val). … (more)
This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 114 of the CBS protein (p.Ala114Val). This variant is present in population databases (rs121964964, gnomAD 0.03%). This missense change has been observed in individual(s) with homocystinuria due to cystathionine-beta synthase (CBS) deficiency (PMID: 7762555, 8353501). ClinVar contains an entry for this variant (Variation ID: 119). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CBS protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects CBS function (PMID: 20490928, 20506325, 22069143, 22267502, 22612060). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Aug 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002617910.3
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.A114V pathogenic mutation (also known as c.341C>T), located in coding exon 3 of the CBS gene, results from a C to T substitution at … (more)
The p.A114V pathogenic mutation (also known as c.341C>T), located in coding exon 3 of the CBS gene, results from a C to T substitution at nucleotide position 341. The alanine at codon 114 is replaced by valine, an amino acid with similar properties. This variant has been reported to co-occur with other CBS pathogenic and likely pathogenic variants in several individuals with homocystinuria, including at least one case where the variants were confirmed in trans (Kozich V et al. Hum. Mol. Genet., 1993 Jun;2:815-6; Sebastio G et al. Am. J. Hum. Genet., 1995 Jun;56:1324-33; Janosík M et al. Am. J. Hum. Genet., 2001 Jun;68:1506-13; Orendác M et al. J Inherit Metab Di . 2003 ;26(8):761-73; Katsushima F et al. Mol Genet Metab. 2006 Apr;87(4):323-8; Sweetser DA et al. N Engl J Med. 2016 11;375(19):1879-1890). Functional studies demonstrated reduced enzyme activity likely due to impaired folding and/or tetramer formation (Janosík M et al. Am. J. Hum. Genet., 2001 Jun;68:1506-13; Kozich V et al. Hum. Mol. Genet., 1993 Jun;2:815-6; Majtan T et al. J. Biol. Chem., 2010 May;285:15866-73). In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Jun 01, 1993)
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no assertion criteria provided
Method: literature only
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HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000020283.2
First in ClinVar: Apr 04, 2013 Last updated: Apr 24, 2015 |
Comment on evidence:
For discussion of the ala114-to-val (A114V) mutation in the CBS gene that was found in compound heterozygous state in a patient with homocystinuria (236200) by … (more)
For discussion of the ala114-to-val (A114V) mutation in the CBS gene that was found in compound heterozygous state in a patient with homocystinuria (236200) by Kozich et al. (1993), see 613881.0002. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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The genetic structure of the Turkish population reveals high levels of variation and admixture. | Kars ME | Proceedings of the National Academy of Sciences of the United States of America | 2021 | PMID: 34426522 |
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. | Weber Hoss GR | Molecular genetics & genomic medicine | 2020 | PMID: 32232970 |
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. | Reuter MS | JAMA psychiatry | 2017 | PMID: 28097321 |
Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities. | Sweetser DA | The New England journal of medicine | 2016 | PMID: 27959664 |
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. | Melenovská P | Journal of inherited metabolic disease | 2015 | PMID: 25331909 |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. | Tabor HK | American journal of human genetics | 2014 | PMID: 25087612 |
Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM. | Pey AL | The Biochemical journal | 2013 | PMID: 22985361 |
Conformational properties of nine purified cystathionine β-synthase mutants. | Hnízda A | Biochemistry | 2012 | PMID: 22612060 |
Surrogate genetics and metabolic profiling for characterization of human disease alleles. | Mayfield JA | Genetics | 2012 | PMID: 22267502 |
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. | Hnízda A | Journal of inherited metabolic disease | 2012 | PMID: 22069143 |
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. | Kopecká J | Journal of inherited metabolic disease | 2011 | PMID: 20490928 |
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. | Kozich V | Human mutation | 2010 | PMID: 20506325 |
Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes. | Majtan T | The Journal of biological chemistry | 2010 | PMID: 20308073 |
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. | Singh LR | PLoS genetics | 2010 | PMID: 20066033 |
Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase. | Yamanishi M | Journal of inorganic biochemistry | 2006 | PMID: 17069888 |
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. | Urreizti R | Journal of human genetics | 2006 | PMID: 16479318 |
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria. | Katsushima F | Molecular genetics and metabolism | 2006 | PMID: 16307898 |
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. | Moat SJ | Human mutation | 2004 | PMID: 14722927 |
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. | Orendác M | Journal of inherited metabolic disease | 2003 | PMID: 14739681 |
Structural insights into mutations of cystathionine beta-synthase. | Meier M | Biochimica et biophysica acta | 2003 | PMID: 12686134 |
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. | Janosík M | American journal of human genetics | 2001 | PMID: 11359213 |
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. | de Franchis R | Human mutation | 1999 | PMID: 10408774 |
Cystathionine beta-synthase mutations in homocystinuria. | Kraus JP | Human mutation | 1999 | PMID: 10338090 |
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria. | De Franchis R | European journal of pediatrics | 1998 | PMID: 9587029 |
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. | Sebastio G | American journal of human genetics | 1995 | PMID: 7762555 |
Molecular defect in a patient with pyridoxine-responsive homocystinuria. | Kozich V | Human molecular genetics | 1993 | PMID: 8353501 |
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Text-mined citations for rs121964964 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.