ClinVar Genomic variation as it relates to human health
NM_000162.5(GCK):c.128G>A (p.Arg43His)
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_000162.5(GCK):c.128G>A (p.Arg43His)
Variation ID: 393453 Accession: VCV000393453.24
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7p13 7: 44153381 (GRCh38) [ NCBI UCSC ] 7: 44192980 (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 Mar 14, 2017 Feb 14, 2024 Aug 25, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000162.5:c.128G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000153.1:p.Arg43His missense NM_001354800.1:c.128G>A NP_001341729.1:p.Arg43His missense NM_033507.3:c.131G>A NP_277042.1:p.Arg44His missense NM_033508.3:c.125G>A NP_277043.1:p.Arg42His missense NC_000007.14:g.44153381C>T NC_000007.13:g.44192980C>T NG_008847.2:g.49790G>A LRG_1074:g.49790G>A LRG_1074t1:c.128G>A LRG_1074p1:p.Arg43His LRG_1074t2:c.131G>A LRG_1074p2:p.Arg44His - Protein change
- R43H, R44H, R42H
- Other names
- NM_000162.5(GCK):c.128G>A
- Canonical SPDI
- NC_000007.14:44153380:C:T
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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
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The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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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
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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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GCK | - | - |
GRCh38 GRCh37 |
1047 | 1072 |
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
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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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 (4) |
reviewed by expert panel
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Aug 25, 2023 | RCV000445457.7 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jan 25, 2024 | RCV000711763.12 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jan 27, 2022 | RCV002379402.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 15, 2022 | RCV003418141.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 2, 2022 | RCV002285330.3 |
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
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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
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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
(Aug 25, 2023)
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reviewed by expert panel
Method: curation
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Monogenic diabetes
(Semidominant inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen Monogenic Diabetes Variant Curation Expert Panel
Accession: SCV004032099.1
First in ClinVar: Sep 09, 2023 Last updated: Sep 09, 2023 |
Comment:
The c.128G>A variant in the glucokinase gene, GCK, causes an amino acid change of arginine to histidine at codon 43 (p.(Arg43His)) of NM_000162.5. GCK is … (more)
The c.128G>A variant in the glucokinase gene, GCK, causes an amino acid change of arginine to histidine at codon 43 (p.(Arg43His)) of NM_000162.5. GCK is defined by the ClinGen MDEP as a gene that has a low rate of benign missense variation and has pathogenic missense variants as a common mechanism of disease (PP2). This variant is predicted to be deleterious by computational evidence, with a REVEL score of 0.8159, which is greater than the MDEP VCEP threshold of 0.70 (PP3). Functional studies demonstrated that the p.Arg43His variant has normal relative activity index (RAI>0.5) and normal GKA/GKRP interaction; however the relative stability index (RSI) was not calculated and therefore neither PS3 or BS3 can be applied (PMID: 22611063). This variant has an incomputable gnomAD v2.1.1 Popmax filtering allele frequency due to 0 copies in the European non-Finnish subpopulation and 1 copy in the Latino/Admixed American subpopulation, thereby meeting the ClinGen MDEP threshold criteria for PM2_Supporting (ENF Popmax FAF <= 0.000003 and <= 2 copies in ENF and <=1 copy in any other subpopulation) (PM2_Supporting). This variant was identified in eight unrelated individuals with hyperglycemia (PS4; PMIDs: 11942313, 22611063, 27106716, 25015100, 22493702, 30245511, 31638168, 33046911). This variant was identified in an individual with a clinical history highly specific for GCK-hyperglycemia (FBG 5.5-8 mmol/L and HbA1c 5.6 - 7.6% and OGTT increment < 3 mmol/L) (PP4_Moderate; PMID: 30245511). This variant segregated with diabetes/hyperglycemia, with three informative meioses in two families (PP1_Moderate; PMIDs: 22611063, 22493702). Another missense variant, c.127C>T (p.Arg43Cys), has been classified as pathogenic by the ClinGen MDEP but has a greater Grantham distance than p.Arg43His (PM5_Supporting). In summary, the c.128G>A variant meets the criteria to be classified as pathogenic for monogenic diabetes. ACMG/AMP criteria applied, as specified for by the GlinGen MDEP (specification version 1.3.0, approved 8/11/2023): PS4, PP4_Moderate, PP1_Moderate, PP2, PP3, PM2_Supporting, PM5_Supporting. (less)
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Likely pathogenic
(Jul 22, 2016)
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criteria provided, single submitter
Method: clinical testing
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Monogenic diabetes
Affected status: yes
Allele origin:
germline
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Translational Genomics Laboratory, University of Maryland School of Medicine
Accession: SCV000537123.1
First in ClinVar: Mar 14, 2017 Last updated: Mar 14, 2017 |
Comment:
The c.128G>A variant in codon 43 (exon 2) of the glucokinase gene, GCK, results in the substitution of Arginine to Histidine. This variant has been … (more)
The c.128G>A variant in codon 43 (exon 2) of the glucokinase gene, GCK, results in the substitution of Arginine to Histidine. This variant has been reported in the literature in patients with a clinical picture consistent with Maturity-Onset Diabetes of the Young, Type 2 (MODY2, also called GCK-MODY) (22611063, 22493702, 11942313), with evidence of co-segregation with diabetes in two separate families (22611063, 22493702). Different amino acid substitutions at this residue, Arg43Ser and Arg43Cys, have also been reported in patients with MODY2 (17573900, 19358091, 25015100). Functional studies suggest that the Arg43His and Arg43Cys substitutions result proteins with decreased stability compared to wild-type (22611063, 25015100). Additionally, multiple lines of computational evidence (SIFT, Polyphen, MutationTaster, LRT, FATHMM, SVM, LR, CADD, GERP) predict this variant is probably damaging to the protein structure, function, or protein-protein interaction. ACMG Criteria = PS3, PP1, PP3 (less)
Number of individuals with the variant: 1
Clinical Features:
Hyperglycemia (present)
Comment on evidence:
PMID:26986878
Secondary finding: no
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Pathogenic
(Sep 30, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics Inc
Accession: SCV000842157.3
First in ClinVar: Oct 20, 2018 Last updated: Sep 19, 2021 |
Comment:
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant is statistically more frequent in affected individuals than in … (more)
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls. This variant appears to segregate with disease in at least one family, however, the available information does not rule out segregation due to chance. At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic, suggesting this variant may also cause disease. Assessment of experimental evidence regarding the effect of this variant on protein function is inconclusive. While thermostability assays reportedly showed that this variant’s GCK activity was statistically decreased, it was at fairly high temperatures and it is uncertain how that would translate in vivo (PMID 22611063). (less)
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Likely pathogenic
(Jan 22, 2020)
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criteria provided, single submitter
Method: curation
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Monogenic diabetes
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Accession: SCV001422799.2
First in ClinVar: Jul 19, 2020 Last updated: Feb 02, 2022 |
Comment:
The p.Arg43His variant in GCK has been reported in at least 8 individuals (including 1 German, 1 Slovakian, 1 Swiss, 1 Cyproit, and 1 Hispanic … (more)
The p.Arg43His variant in GCK has been reported in at least 8 individuals (including 1 German, 1 Slovakian, 1 Swiss, 1 Cyproit, and 1 Hispanic individuals) with Monogenic Diabetes, segregated with disease in 6 affected relatives from 2 family (PMID: 11942313, 24430320, 11942313, 22611063, 22493702, 27106716; DOI:10.3252/pso.eu.54espe.2015; Shammas et al. 2012), and has been identified in 0.002891% (1/34592) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs764232985). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a carrier frequency. Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. This variant has also been reported likely pathogenic in ClinVar (Variation ID: 393453). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. One additional pathogenic variant, resulting in a different amino acid change at the same position, p.Arg43Cys, has been reported in association with disease in the literature, supporting that a change at this position may not be tolerated (PMID: 21348868, 30592380, 21521320, 23771172, 19790256, 25015100/Variation ID: 585911). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PS4_Moderate, PM5, PM2_Supporting, PP3, PP1_moderate (Richards 2015). (less)
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Pathogenic
(Aug 02, 2022)
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criteria provided, single submitter
Method: research
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Maturity-onset diabetes of the young type 2
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Geisinger Clinic, Geisinger Health System
Accession: SCV002562157.1
First in ClinVar: Oct 01, 2022 Last updated: Oct 01, 2022 |
Comment:
PS4, PP1_Moderate, PP2, PP3, PM2, PM5, PP4, PS3
Number of individuals with the variant: 1
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Likely pathogenic
(Jan 27, 2022)
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criteria provided, single submitter
Method: clinical testing
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Maturity onset diabetes mellitus in young
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002694114.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The p.R43H variant (also known as c.128G>A), located in coding exon 2 of the GCK gene, results from a G to A substitution at nucleotide … (more)
The p.R43H variant (also known as c.128G>A), located in coding exon 2 of the GCK gene, results from a G to A substitution at nucleotide position 128. The arginine at codon 43 is replaced by histidine, an amino acid with highly similar properties. This variant was identified in multiple individuals with a maturity-onset diabetes of the young phenotype (Ziemssen F et al. Diabetologia, 2002 Feb;45:286-7; Osbak KK et al. Hum. Mutat., 2009 Nov;30:1512-26; Valentínová L et al. PLoS ONE, 2012 Apr;7:e34541; Ma Y et al. Genet. Med., 2019 04;21:939-947), including in one family with 3 individuals with this variant (Steele AM et al. JAMA, 2014 Jan;311:279-86). Functional studies demonstrated that protein with this variant is unstable with decreased thermostability compared to wild type (Beer NL et al. Diabetes Care, 2012 Jul;35:1482-4). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(Jun 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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Monogenic diabetes
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004020480.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
Variant summary: GCK c.128G>A (p.Arg43His) results in a non-conservative amino acid change located in the N-terminal domain (IPR022672) of the encoded protein sequence. Four of … (more)
Variant summary: GCK c.128G>A (p.Arg43His) results in a non-conservative amino acid change located in the N-terminal domain (IPR022672) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251444 control chromosomes (gnomAD). The variant, c.128G>A, has been reported in the literature in multiple individuals affected with Monogenic Diabetes, including families where the variant segregated with the disease (e.g. Ziemssen_2002, Beer_2012, Valentinova_2012, Huang_2018, Glotov_2019, Abreu_2022). These data indicate that the variant is very likely to be associated with disease. At least one publication reported experimental evidence evaluating an impact on protein function, and demonstrated that while the R43H variant protein exhibited near normal enzyme kinetics, it had decreased thermostability compared to the wild-type (Beer_2012). The following publications have been ascertained in the context of this evaluation (PMID: 11942313, 22611063, 22493702, 30155490, 31638168, 35592779). Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, and all of them classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Likely pathogenic
(Sep 28, 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: SCV001777855.4
First in ClinVar: Aug 14, 2021 Last updated: Oct 05, 2023 |
Comment:
Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein … (more)
Not observed at a significant frequency in large population cohorts (gnomAD); 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: 25015100, 11942313, 22611063, 19790256, 17573900, 19358091, 27106716, 30245511, 24430320, 31638168, 22493702, 31291970, 34108472, 33277730, 32375122, 33046911, 35472491, 35592779, 36208030) (less)
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Pathogenic
(Oct 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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GCK-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004114052.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The GCK c.128G>A variant is predicted to result in the amino acid substitution p.Arg43His. This variant has been reported in the heterozygous state in multiple … (more)
The GCK c.128G>A variant is predicted to result in the amino acid substitution p.Arg43His. This variant has been reported in the heterozygous state in multiple individuals with diabetes and maturity onset diabetes of the young (MODY) (Ziemssen et al. 2002. PubMed ID: 11942313; Beer et al. 2012. PubMed ID: 22611063; Glotov et al. 2019. PubMed ID: 31638168; Bonneford et al. 2020. PubMed ID: 33046911, supplementary tables; Ma et al. 2019. PubMed ID: 30245511; Steele et al. PubMed ID: 24430320, supplementary tables; Valentinova et al. 2012. PubMed ID: 22493702; Carmody et al. 2016. PubMed ID: 27106716, supplementary tables). Both functional and family segregation studies have supported its pathogenicity (Beer et al. 2012. PubMed ID: 22611063). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-44192980-C-T). Multiple other variants at this same amino acid position have also been reported in the heterozygous state in individuals with MODY (p.Arg43Ser, p.Arg43Gly, p.Arg43Cys, p.Arg43Pro; Human Gene Mutation Database, https://www.hgmd.cf.ac.uk/). This variant is interpreted as pathogenic. (less)
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Pathogenic
(Jan 25, 2024)
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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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Invitae
Accession: SCV003439958.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 43 of the GCK protein (p.Arg43His). … (more)
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 43 of the GCK protein (p.Arg43His). This variant is present in population databases (rs764232985, gnomAD 0.003%). This missense change has been observed in individuals with clinical features of autosomal dominant maturity onset diabetes of the young (PMID: 11942313, 22493702, 22611063, 28726111, 30155490, 30245511, 31638168, 33046911, 34108472; Invitae). ClinVar contains an entry for this variant (Variation ID: 393453). 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 not expected to disrupt GCK protein function with a negative predictive value of 80%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GCK function (PMID: 22611063). This variant disrupts the p.Arg43 amino acid residue in GCK. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17573900, 22611063, 23771172). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (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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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. | Mirshahi UL | American journal of human genetics | 2022 | PMID: 36257325 |
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil. | Abreu GM | Frontiers in endocrinology | 2022 | PMID: 35592779 |
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. | Goodrich JK | Nature communications | 2021 | PMID: 34108472 |
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. | Bonnefond A | Nature metabolism | 2020 | PMID: 33046911 |
MODY2 in Asia: analysis of GCK mutations and clinical characteristics. | Zhou Y | Endocrine connections | 2020 | PMID: 32375122 |
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes. | Glotov OS | Molecular medicine reports | 2019 | PMID: 31638168 |
A new clinical screening strategy and prevalence estimation for glucokinase variant-induced diabetes in an adult Chinese population. | Ma Y | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30245511 |
Lower Circulating miR-122 Level in Patients with HNF1A Variant-Induced Diabetes Compared with Type 2 Diabetes. | Huang X | Journal of diabetes research | 2018 | PMID: 30155490 |
Glucokinase mutations in pediatric patients with impaired fasting glucose. | Aloi C | Acta diabetologica | 2017 | PMID: 28726111 |
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. | Carmody D | Acta diabetologica | 2016 | PMID: 27106716 |
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. | Raimondo A | Human molecular genetics | 2014 | PMID: 25015100 |
Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. | Steele AM | JAMA | 2014 | PMID: 24430320 |
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. | Ellard S | Diabetologia | 2013 | PMID: 23771172 |
Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. | Beer NL | Diabetes care | 2012 | PMID: 22611063 |
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. | Valentínová L | PloS one | 2012 | PMID: 22493702 |
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. | Osbak KK | Human mutation | 2009 | PMID: 19790256 |
Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients. | Lopez AP | Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association | 2009 | PMID: 19358091 |
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. | Estalella I | Clinical endocrinology | 2007 | PMID: 17573900 |
To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123. | Ziemssen F | Diabetologia | 2002 | PMID: 11942313 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/9fae2e1c-fc20-4b0e-8532-993a8f0655f8 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/dd64642b-fad9-40c9-a9ea-0b3de810cdff | - | - | - | - |
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Text-mined citations for rs764232985 ...
HelpRecord last updated Mar 30, 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.