ClinVar Genomic variation as it relates to human health
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
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_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
Variation ID: 469 Accession: VCV000000469.41
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 9q31.1 9: 101421899 (GRCh38) [ NCBI UCSC ] 9: 104184181 (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 4, 2013 May 12, 2024 Jan 21, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000035.4:c.1005C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000026.2:p.Asn335Lys missense NC_000009.12:g.101421899G>C NC_000009.11:g.104184181G>C NG_012387.1:g.18882C>G LRG_1244:g.18882C>G LRG_1244t1:c.1005C>G LRG_1244p1:p.Asn335Lys P05062:p.Asn335Lys - Protein change
- N335K
- Other names
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- Canonical SPDI
- NC_000009.12:101421898:G:C
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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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00011
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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ALDOB | - | - |
GRCh38 GRCh37 |
506 | 545 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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 (16) |
criteria provided, multiple submitters, no conflicts
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Jan 21, 2024 | RCV000000498.32 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jun 1, 2023 | RCV000723841.15 | |
ALDOB-related disorder
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Pathogenic (1) |
criteria provided, single submitter
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Apr 18, 2023 | RCV003398398.4 |
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
(Feb 06, 2018)
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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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Eurofins Ntd Llc (ga)
Accession: SCV000232899.5
First in ClinVar: Jun 28, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 2
Sex: mixed
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Pathogenic
(Nov 20, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hereditary fructosuria
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916435.1
First in ClinVar: Jun 02, 2019 Last updated: Jun 02, 2019 |
Comment:
Variant summary: The ALDOB c.1005C>G (p.Asn335Lys) variant involves the alteration of a non-conserved nucleotide that 5/5 in silico tools predict to have a damaging outcome. … (more)
Variant summary: The ALDOB c.1005C>G (p.Asn335Lys) variant involves the alteration of a non-conserved nucleotide that 5/5 in silico tools predict to have a damaging outcome. This variant was found in 32/278824 control chromosomes at a frequency of 0.0001148, which does not exceed the estimated maximal expected allele frequency of a pathogenic ALDOB variant (0.0044721). The variant has been identified in numerous HFI patients as both a compound heterozygous and homozygous allele (Coffee_2010; Santer_2005). In addition, a functional study showed that the variant enzyme activity and catalytic effiency were severely reduced compared to WT controls (Esposito_2002). Multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Dec 19, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hereditary fructosuria
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001194035.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 04, 2020 |
Comment:
NM_000035.3(ALDOB):c.1005C>G(N335K) is classified as pathogenic in the context of hereditary fructose intolerance. Sources cited for classification include the following: PMID 2336380, 15880727, 20033295, and 8541450. … (more)
NM_000035.3(ALDOB):c.1005C>G(N335K) is classified as pathogenic in the context of hereditary fructose intolerance. Sources cited for classification include the following: PMID 2336380, 15880727, 20033295, and 8541450. Classification of NM_000035.3(ALDOB):c.1005C>G(N335K) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(May 06, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary fructosuria
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002767903.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, 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_v1.3.4, 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 hereditary fructose intolerance (MIM#229600). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from asparagine to lysine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (34 heterozygotes, 0 homozygotes). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2) (1 heterozygote, 0 homozygotes). (I) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated glycolytic domain (PDB, NCBI). (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported multiple times as likely pathogenic and pathogenic, and has been observed in many homozygous and compound heterozygous patients with hereditary fructose intolerance (ClinVar, PMID: 30833214, PMID: 15880727). (SP) 1002 - This variant has moderate functional evidence supporting abnormal protein function. In vitro assays demonstrate that this missense variant results in reduced catalytic activity and efficiency of substrates fructose-1,6-bisphosphate and fructose-1-phosphate (PMID: 12417303). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Pathogenic
(May 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary fructosuria
Affected status: yes
Allele origin:
germline
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Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV004014026.1
First in ClinVar: Jul 22, 2023 Last updated: Jul 22, 2023 |
Comment:
PM2, PP3, PP4, PP5
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Pathogenic
(Apr 18, 2023)
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criteria provided, single submitter
Method: clinical testing
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ALDOB-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004105841.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The ALDOB c.1005C>G variant is predicted to result in the amino acid substitution p.Asn335Lys. This variant (sometimes referred to as N334K in the literature) is … (more)
The ALDOB c.1005C>G variant is predicted to result in the amino acid substitution p.Asn335Lys. This variant (sometimes referred to as N334K in the literature) is commonly reported to be causative for hereditary fructose intolerance (Cross et al. 1990. PubMed ID 2336380; Santer et al. 2005. PubMed ID 15880727; Davit-Spraul et al. 2008. PubMed ID 18541450). This variant is reported in 0.024% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-104184181-G-C). This variant is interpreted as pathogenic. (less)
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Pathogenic
(Dec 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary fructosuria
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003814945.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Nov 01, 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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002821959.9
First in ClinVar: Jan 21, 2023 Last updated: May 12, 2024 |
Comment:
ALDOB: PS3, PS4, PP1:Moderate
Number of individuals with the variant: 1
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Pathogenic
(Mar 12, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hereditary fructosuria
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001366458.2
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,PM3,PP3.
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Pathogenic
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary fructosuria
Affected status: unknown
Allele origin:
germline
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Mendelics
Accession: SCV002517551.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
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Pathogenic
(Feb 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary fructosuria
Affected status: yes
Allele origin:
unknown
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3billion
Accession: SCV003841608.1
First in ClinVar: Mar 18, 2023 Last updated: Mar 18, 2023 |
Comment:
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.012%). Protein truncation variants are a common disease-causing … (more)
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.012%). Protein truncation variants are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.69; 3Cnet: 0.48). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000000469). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 2 similarly affected unrelated individuals (PMID: 12205126, 15880727, 18541450, 19768653, 23430936). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Abnormality of the liver (present) , Hepatic steatosis (present) , Autoimmunity (present) , Thyroiditis (present)
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Pathogenic
(Jun 01, 2023)
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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: SCV004040167.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
Comment:
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: 10024431, … (more)
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: 10024431, 12205126, 15532022, 20033295, 11757579, 12417303, 15880727, 20848650, 23430936, 19768653, 18188031, 29368648, 1856829, 18541450, 34426522, 31589614, 22975760, 34162028, 2336380) (less)
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Pathogenic
(Oct 26, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary fructosuria
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004196104.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jan 21, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary fructosuria
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000944145.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 335 of the ALDOB protein (p.Asn335Lys). … (more)
This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 335 of the ALDOB protein (p.Asn335Lys). This variant is present in population databases (rs78340951, gnomAD 0.02%). This missense change has been observed in individuals with fructose intolerance (PMID: 1856829, 2336380, 12205126, 15880727, 18541450, 19768653, 23430936). This variant is also known as p.Asn334Lys. ClinVar contains an entry for this variant (Variation ID: 469). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects ALDOB function (PMID: 12417303). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Hereditary fructosuria
Affected status: unknown
Allele origin:
germline
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HFI Laboratory at Boston University, Boston University
Accession: SCV000067377.1
First in ClinVar: Mar 18, 2017 Last updated: Mar 18, 2017 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Hereditary fructosuria
Affected status: unknown
Allele origin:
germline
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DLE - Diagnosticos Laboratoriais Especializados
Accession: SCV000077517.1
First in ClinVar: Mar 18, 2017 Last updated: Mar 18, 2017 |
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Pathogenic
(Aug 01, 2008)
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no assertion criteria provided
Method: literature only
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FRUCTOSE INTOLERANCE, HEREDITARY
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000020647.2
First in ClinVar: Apr 04, 2013 Last updated: May 04, 2020 |
Comment on evidence:
In 4 unrelated Yugoslavian patients with hereditary fructose intolerance (HFI; 229600) , Cross et al. (1990) identified a G-to-C transversion in exon 9 of the … (more)
In 4 unrelated Yugoslavian patients with hereditary fructose intolerance (HFI; 229600) , Cross et al. (1990) identified a G-to-C transversion in exon 9 of the ALDOB gene, resulting in an asn334-to-lys (N334K) substitution. The mutation was present in homozygous state in 1 patient and compound heterozygous state in the other 3. Cross et al. (1990) also identified this mutation in compound heterozygous state in an Austrian and a British patient with fructose intolerance. Sebastio et al. (1991) identified the N334K mutation in 11 unrelated Italian patients with hereditary fructose intolerance. Davit-Spraul et al. (2008) identified the N334K mutation, which they referred to as an N335K mutation caused by a 1005C-G transversion in exon 9, in 5% of mutant alleles from 162 patients from 92 families with hereditary fructose intolerance. It was the third most common mutant allele identified in their study. Most of the patients were Turkish immigrants to Europe, suggesting that the mutation is more common in southeast Europe. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553838.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The ALDOB p.N335K variant was identified in > 15 individuals with hereditary fructose intolerance as a homozygous or compound heterozygous variant (Santer_2005_PMID:15880727; Esposito_2010_PMID:20848650; Davit-Spraul_2008_PMID:18541450; Ferri_2012_PMID:23430936; … (more)
The ALDOB p.N335K variant was identified in > 15 individuals with hereditary fructose intolerance as a homozygous or compound heterozygous variant (Santer_2005_PMID:15880727; Esposito_2010_PMID:20848650; Davit-Spraul_2008_PMID:18541450; Ferri_2012_PMID:23430936; Sánchez-Gutiérrez_2002_PMID:12417303; Sebastio_1991_PMID:1856829; Coffee_2010_PMID:20882353; Coffee_2010_PMID:20033295). The variant was identified in dbSNP (ID: rs78340951) and ClinVar (classified as pathogenic by Counsyl, EGL Genetic Diagnostics and three other submitters, and as likely pathogenic by Invitae). The variant was identified in control databases in 34 of 280458 chromosomes at a frequency of 0.0001212 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: European (non-Finnish) in 31 of 127538 chromosomes (freq: 0.000243) and Latino in 3 of 35264 chromosomes (freq: 0.000085), but was not observed in the African, Ashkenazi Jewish, East Asian, European (Finnish), Other, or South Asian populations. The p.N335 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. The p.N335K variant was found to result in significantly reduced enzyme activity (Esposito_2002_PMID:12417303). In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Pathogenic
(Mar 18, 2021)
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no assertion criteria provided
Method: literature only
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Hereditary fructosuria
Affected status: yes
Allele origin:
unknown
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ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul
Accession: SCV001573856.1
First in ClinVar: May 10, 2021 Last updated: May 10, 2021 |
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Pathogenic
(Jan 07, 2020)
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no assertion criteria provided
Method: clinical testing
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Fructose intolerance
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV002078708.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
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not provided
(-)
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no classification provided
Method: literature only
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Hereditary fructosuria
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV000257574.3
First in ClinVar: Dec 24, 2015 Last updated: Oct 01, 2022 |
Comment:
One of the six most common HFI variants in US and European populations including Turkey, Spain, Central Europe, France, US, and Italy
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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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Hereditary Fructose Intolerance. | Adam MP | - | 2021 | PMID: 26677512 |
Non-alcoholic fatty liver in hereditary fructose intolerance. | Aldámiz-Echevarría L | Clinical nutrition (Edinburgh, Scotland) | 2020 | PMID: 30833214 |
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. | Ferri L | JIMD reports | 2012 | PMID: 23430936 |
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. | Coffee EM | Journal of inherited metabolic disease | 2010 | PMID: 20882353 |
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. | Coffee EM | Journal of inherited metabolic disease | 2010 | PMID: 20033295 |
Secondary disorders of glycosylation in inborn errors of fructose metabolism. | Quintana E | Journal of inherited metabolic disease | 2009 | PMID: 19768653 |
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. | Davit-Spraul A | Molecular genetics and metabolism | 2008 | PMID: 18541450 |
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. | Santer R | Human mutation | 2005 | PMID: 15880727 |
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. | Esposito G | FEBS letters | 2002 | PMID: 12417303 |
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. | Sánchez-Gutiérrez JC | Journal of medical genetics | 2002 | PMID: 12205126 |
Mutation analysis in Turkish patients with hereditary fructose intolerance. | Dursun A | Journal of inherited metabolic disease | 2001 | PMID: 11757579 |
Molecular biology in reproductive endocrinology. | Layman LC | Current opinion in obstetrics & gynecology | 1995 | PMID: 8541450 |
Aldolase B mutations in Italian families affected by hereditary fructose intolerance. | Sebastio G | Journal of medical genetics | 1991 | PMID: 1856829 |
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. | Cross NC | Nucleic acids research | 1990 | PMID: 2336380 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ALDOB | - | - | - | - |
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Text-mined citations for rs78340951 ...
HelpRecord last updated May 19, 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.