ClinVar Genomic variation as it relates to human health
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
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_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
Variation ID: 157930 Accession: VCV000157930.64
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q14.3 13: 51961906 (GRCh38) [ NCBI UCSC ] 13: 52536042 (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 Nov 23, 2014 Oct 8, 2024 Mar 29, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000053.4:c.1877G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000044.2:p.Gly626Ala missense NM_001005918.3:c.1869+2966G>C intron variant NM_001243182.2:c.1544G>C NP_001230111.1:p.Gly515Ala missense NM_001330578.2:c.1877G>C NP_001317507.1:p.Gly626Ala missense NM_001330579.2:c.1869+2966G>C intron variant NC_000013.11:g.51961906C>G NC_000013.10:g.52536042C>G NG_008806.1:g.54589G>C P35670:p.Gly626Ala - Protein change
- G626A, G515A
- Other names
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- Canonical SPDI
- NC_000013.11:51961905:C:G
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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.
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00009
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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ATP7B | - | - |
GRCh38 GRCh37 |
2910 | 3054 |
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/Likely pathogenic (11) |
criteria provided, multiple submitters, no conflicts
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Mar 29, 2024 | RCV000145253.37 | |
Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Mar 28, 2023 | RCV000415842.33 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 28, 2023 | RCV003162602.3 | |
ATP7B-related disorder
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Pathogenic (1) |
no assertion criteria provided
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Jul 22, 2024 | RCV004751289.1 |
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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Likely pathogenic
(Jun 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV001752711.1
First in ClinVar: Jul 18, 2021 Last updated: Jul 18, 2021
Comment:
This variant has been detected in individual(s) who were sent for testing of Renasight - kidney gene panel.
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Likely pathogenic
(Oct 17, 2021)
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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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Genetic Services Laboratory, University of Chicago
Accession: SCV000192312.2
First in ClinVar: Nov 23, 2014 Last updated: Jan 29, 2022 |
Comment:
The sequence change, c.1877G>C, is located in exon 6 and results in an amino acid change, p.Gly626Ala. The p.Gly626Ala change affects a highly conserved amino … (more)
The sequence change, c.1877G>C, is located in exon 6 and results in an amino acid change, p.Gly626Ala. The p.Gly626Ala change affects a highly conserved amino acid residue located in a transmembrane domain of the ATP7B protein. The p.Gly626Ala substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change has previously been described in individuals with Wilson disease together with a pathogenic variant (PMIDs: 8533760, 22735241, 8938442, 24706876). Multiple functional studies have shown conflicting results (PMID: 18203200, 22240481, 24706876). This sequence change has been described in the gnomAD database with a frequency of 0.011% in the non-Finnish European subpopulation (dbSNP rs587783299). These collective evidences indicate that this sequence change is likely pathogenic. (less)
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Likely pathogenic
(Aug 23, 2021)
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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: SCV000589556.4
First in ClinVar: Jan 30, 2017 Last updated: Mar 04, 2023 |
Comment:
Multiple functional studies have shown conflicting results (Huster D et al., 2012; de Bie P et al., 2007; Hsi G et al., 2008; Braiterman LT … (more)
Multiple functional studies have shown conflicting results (Huster D et al., 2012; de Bie P et al., 2007; Hsi G et al., 2008; Braiterman LT et al., 2014; Shah AB et al., 1997; Shanmugavel KP et al., 2019); 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: 23518715, 16207219, 31598802, 31980526, 22735241, 18371106, 9671269, 24798599, 15994426, 10544227, 29063292, 18286826, 22677543, 8938442, 9311736, 8533760, 24706876, 18203200, 17919502, 22240481) (less)
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Pathogenic
(Jan 20, 2024)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000832093.6
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 626 of the ATP7B protein (p.Gly626Ala). … (more)
This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 626 of the ATP7B protein (p.Gly626Ala). This variant is present in population databases (rs587783299, gnomAD 0.1%). This missense change has been observed in individual(s) with Wilson disease (PMID: 8938442, 9311736, 10544227, 16207219, 18371106, 22677543, 22735241, 24706876, 26799313; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as p.Gly627Ala. ClinVar contains an entry for this variant (Variation ID: 157930). 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 ATP7B protein function with a positive predictive value of 80%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on ATP7B function (PMID: 17919502, 18203200, 22240481, 24706876). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001522512.3
First in ClinVar: Mar 22, 2021 Last updated: Jun 17, 2024 |
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Likely pathogenic
(Aug 10, 2021)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV001977179.1
First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
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Likely pathogenic
(May 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694406.4
First in ClinVar: May 27, 2015 Last updated: Jul 17, 2022 |
Comment:
Variant summary: ATP7B c.1877G>C (p.Gly626Ala) results in a non-conservative amino acid change located in the heavy metal-associated domain, copper ion-binding (IPR006122) of the encoded protein … (more)
Variant summary: ATP7B c.1877G>C (p.Gly626Ala) results in a non-conservative amino acid change located in the heavy metal-associated domain, copper ion-binding (IPR006122) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.8e-05 in 249616 control chromosomes. This frequency is not higher than expected for a pathogenic variant in ATP7B causing Wilson Disease (8.8e-05 vs 0.0054), allowing no conclusion about variant significance. c.1877G>C has been reported in the literature on certain occasions in compound heterozygosity with other pathogenic variants (e.g. p.Gly1061Glu, p.His1069Gln), in multiple individuals affected with Wilson Disease (Bost_2012, Braiterman_2014, Coffey_2013, Figus_1995, Ljubic_2016, Loudianos_1999, Todorov_2005, Collins_2021). These data indicate that the variant is very likely to be associated with disease. Experimental evidence evaluating an impact on protein function provided conflicting conclusions about the variant effect. Specifically, one study demonstrated the variant to cause partial copper transport activity but normal phosphorylation activity (Huster_2012) while, other studies revealed normal copper transport and trafficking (Braiterman_2014, Hsi_2008). A separate study showed the variant protein retained its ability to interact with COMMD1 but at decreased efficiency (de Bie_2007); however, it is not conclusively established if and how this change could lead to disease. Therefore, these studies do not allow convincing conclusions about the variant effect. Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 (likely pathogenic, n=6; pathogenic, n=1, VUS, n=1). Some submitters cite overlapping evidence utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as likely pathogenic. (less)
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Likely pathogenic
(May 15, 2014)
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criteria provided, single submitter
Method: literature only
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Wilson's disease
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000220323.2
First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022 |
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Likely pathogenic
(Mar 28, 2023)
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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: SCV002525825.2
First in ClinVar: Jun 11, 2022 Last updated: Jan 26, 2024 |
Comment:
PP3, PP4, PM2, PS4_moderate
Number of individuals with the variant: 3
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Likely pathogenic
(Apr 27, 2022)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003821404.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Likely pathogenic
(Apr 04, 2023)
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criteria provided, single submitter
Method: research
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Wilson disease
Affected status: yes
Allele origin:
germline
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Institute of Genomics, University of Tartu
Accession: SCV004239221.1
First in ClinVar: Jul 29, 2024 Last updated: Jul 29, 2024 |
Comment:
This ATP7B c.1877G>C; p.Gly626Ala (rs587783299) variant was identified in the 2020-2023 Wilson's disease genotype-first recall study at the Estonian Biobank. We classified this variant as … (more)
This ATP7B c.1877G>C; p.Gly626Ala (rs587783299) variant was identified in the 2020-2023 Wilson's disease genotype-first recall study at the Estonian Biobank. We classified this variant as likely pathogenic according to Richards et al. 2015 ACMG guidelines. Evidence: PM1 (located in the copper ion-binding heavy metal-associated domain (IPR006122)), PM2 (MAF 0.000065 in GnomAD v4.0.0), PM3 (found in trans with another pathogenic variant (p.Met769fs) in our recall study), PP3 (CADD 25.6, Revel 0.89, MutationTester D), PP4 (PMID: 10544227, 23518715; see clinical features), PP5 (SCV000832093.5) (less)
Number of individuals with the variant: 3
Clinical Features:
Decreased circulating ceruloplasmin concentration (present) , Decreased circulating copper concentration (present) , Abnormal liver enzyme activity or concentration (present) , Action tremor (present) , Postural … (more)
Decreased circulating ceruloplasmin concentration (present) , Decreased circulating copper concentration (present) , Abnormal liver enzyme activity or concentration (present) , Action tremor (present) , Postural tremor (present) , Sensory ataxia (present) , Cerebellar ataxia (present) , Rigidity (present) , Bradykinesia (present) , nucleus lentiformis hyperechogenicity in transcranial sonography. (present) (less)
Age: 30-60 years
Sex: mixed
Ethnicity/Population group: Northern European (non-Finnish)
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Likely Pathogenic
(Feb 05, 2024)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004846328.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces glycine with alanine at codon 626 of the ATP7B protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces glycine with alanine at codon 626 of the ATP7B protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have shown conflicting results on the impact of this variant on protein function (PMID: 18203200, 22240481, 24706876). One study showed this variant partially disrupted copper transport but maintained normal phosphorylation activity (PMID: 22240481), while two other studies showed normal copper transport and localization (PMID: 18203200, 24706876). This variant has been reported in many individuals affected with Wilson disease (PMID: 8533760, 8938442, 9311736, 10544227, 16207219, 18371106, 22677543, 22735241, 23518715, 24706876, 26799313, 33640437, 34400371, 36096368). In a number of these individuals, this variant has been determined to be in the compound heterozygous state with another pathogenic variant (PMID: 23518715, 24706876, 26799313, 33640437). These data indicate that this variant contributes to Wilson disease in an autosomal recessive manner. This variant has been identified in 24/280910 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
Number of individuals with the variant: 22
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Pathogenic
(Feb 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003875160.2
First in ClinVar: Apr 15, 2023 Last updated: May 01, 2024 |
Comment:
The c.1877G>C (p.G626A) alteration is located in exon 6 (coding exon 6) of the ATP7B gene. This alteration results from a G to C substitution … (more)
The c.1877G>C (p.G626A) alteration is located in exon 6 (coding exon 6) of the ATP7B gene. This alteration results from a G to C substitution at nucleotide position 1877, causing the glycine (G) at amino acid position 626 to be replaced by an alanine (A). Based on data from gnomAD, the C allele has an overall frequency of 0.009% (24/280910) total alleles studied. The highest observed frequency was 0.097% (10/10362) of Ashkenazi Jewish alleles. This alteration was detected in conjunction with another alteration in ATP7B in multiple individuals with Wilson disease (Collins, 2021; Ljubic, 2016; Coffey, 2013). This amino acid position is highly conserved in available vertebrate species. Multiple functional assays show no significant alterations to copper transport activity in vitro (Hsi, 2008; Huster, 2012; Braiterman, 2014). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. (less)
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Likely pathogenic
(Feb 01, 2024)
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criteria provided, single submitter
Method: curation
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Wilson disease
Affected status: no
Allele origin:
germline
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Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV005052024.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 2024 |
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Likely pathogenic
(Apr 01, 2021)
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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: SCV000493244.32
First in ClinVar: Jan 30, 2017 Last updated: Oct 08, 2024 |
Number of individuals with the variant: 3
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Likely pathogenic
(Feb 12, 2020)
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no assertion criteria provided
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV002087860.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
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Pathogenic
(Jul 22, 2024)
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no assertion criteria provided
Method: clinical testing
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ATP7B-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV005360871.1
First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024 |
Comment:
The ATP7B c.1877G>C variant is predicted to result in the amino acid substitution p.Gly626Ala. This variant has been repeatedly documented to be causative for Wilson … (more)
The ATP7B c.1877G>C variant is predicted to result in the amino acid substitution p.Gly626Ala. This variant has been repeatedly documented to be causative for Wilson Disease (Figus et al. 1995. PubMed ID: 8533760; Loudianos et al. 1999. PubMed ID: 10544227; Shah et al. 1997. PubMed ID: 9311736). This variant is reported in 0.097% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. This variant is interpreted 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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ATP7B Genotype and Chronic Liver Disease Treatment Outcomes in Wilson Disease: Worse Survival With Loss-of-Function Variants. | Nayagam JS | Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association | 2023 | PMID: 36096368 |
ATP7B variant spectrum in a French pediatric Wilson disease cohort. | Couchonnal E | European journal of medical genetics | 2021 | PMID: 34400371 |
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease. | Collins CJ | Gastroenterology | 2021 | PMID: 33640437 |
Wilson disease missense mutations in ATP7B affect metal-binding domain structural dynamics. | Shanmugavel KP | Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine | 2019 | PMID: 31598802 |
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations. | Ariöz C | Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine | 2017 | PMID: 29063292 |
ATP7B Gene Mutations in Croatian Patients with Wilson Disease. | Ljubić H | Genetic testing and molecular biomarkers | 2016 | PMID: 26799313 |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. | Braiterman LT | Proceedings of the National Academy of Sciences of the United States of America | 2014 | PMID: 24706876 |
A genetic study of Wilson's disease in the United Kingdom. | Coffey AJ | Brain : a journal of neurology | 2013 | PMID: 23518715 |
Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease. | Mihaylova V | The neurologist | 2012 | PMID: 22735241 |
Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. | Bost M | Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) | 2012 | PMID: 22677543 |
Diverse functional properties of Wilson disease ATP7B variants. | Huster D | Gastroenterology | 2012 | PMID: 22240481 |
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. | Gojová L | Clinical genetics | 2008 | PMID: 18371106 |
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. | Hsi G | Human mutation | 2008 | PMID: 18203200 |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. | de Bie P | Gastroenterology | 2007 | PMID: 17919502 |
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. | Todorov T | Clinical genetics | 2005 | PMID: 16207219 |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. | Loudianos G | Journal of medical genetics | 1999 | PMID: 10544227 |
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. | Shah AB | American journal of human genetics | 1997 | PMID: 9311736 |
Efficient detection of mutations in Wilson disease by manifold sequencing. | Waldenström E | Genomics | 1996 | PMID: 8938442 |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. | Figus A | American journal of human genetics | 1995 | PMID: 8533760 |
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Text-mined citations for rs587783299 ...
HelpRecord last updated Oct 13, 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.