ClinVar Genomic variation as it relates to human health
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
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.
Uncertain significance(10); Benign(1); Likely benign(2)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
Variation ID: 13697 Accession: VCV000013697.38
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q21.12 7: 87431528 (GRCh38) [ NCBI UCSC ] 7: 87060844 (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 Oct 2, 2016 Apr 15, 2024 Aug 15, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000443.4:c.1769G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000434.1:p.Arg590Gln missense NM_018849.3:c.1769G>A NP_061337.1:p.Arg590Gln missense NM_018850.3:c.1769G>A NP_061338.1:p.Arg590Gln missense NC_000007.14:g.87431528C>T NC_000007.13:g.87060844C>T NG_007118.2:g.53905G>A P21439:p.Arg590Gln - Protein change
- R590Q
- Other names
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- Canonical SPDI
- NC_000007.14:87431527: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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0.00439 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00418
1000 Genomes Project 0.00439
1000 Genomes Project 30x 0.00453
The Genome Aggregation Database (gnomAD) 0.00625
Trans-Omics for Precision Medicine (TOPMed) 0.00663
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00784
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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ABCB4 | - | - |
GRCh38 GRCh37 |
885 | 933 |
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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Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Mar 5, 2018 | RCV000014696.38 | |
Uncertain significance (2) |
criteria provided, single submitter
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Mar 5, 2018 | RCV000033067.25 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Aug 15, 2023 | RCV000249752.13 | |
Uncertain significance (1) |
criteria provided, single submitter
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Mar 5, 2018 | RCV000662150.5 | |
not provided (1) |
no classification provided
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- | RCV000709935.2 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Jul 18, 2023 | RCV000723739.26 | |
Uncertain significance (1) |
criteria provided, single submitter
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May 28, 2019 | RCV000987909.2 |
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 benign
(-)
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criteria provided, single submitter
Method: clinical testing
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NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000304284.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
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Uncertain significance
(Apr 10, 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: SCV000226227.5
First in ClinVar: Jun 29, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 48
Sex: mixed
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Uncertain significance
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Progressive familial intrahepatic cholestasis type 1
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001137402.1
First in ClinVar: Jan 12, 2020 Last updated: Jan 12, 2020 |
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Benign
(Apr 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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Cholestasis, intrahepatic, of pregnancy, 3
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV001319987.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. (less)
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Uncertain significance
(May 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002548022.1
First in ClinVar: Jul 17, 2022 Last updated: Jul 17, 2022 |
Comment:
Variant summary: ABCB4 c.1769G>A (p.Arg590Gln) results in a conservative amino acid change located in the ABC transporter-like, ATP-binding domain (IPR003439) of the encoded protein sequence. … (more)
Variant summary: ABCB4 c.1769G>A (p.Arg590Gln) results in a conservative amino acid change located in the ABC transporter-like, ATP-binding domain (IPR003439) 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 0.0045 in 251094 control chromosomes in the gnomAD database, including 4 homozygotes. The observed variant frequency is approximately 2.0 fold of the estimated maximal expected allele frequency for a pathogenic variant in ABCB4 causing Familial Intrahepatic Cholestasis phenotype (0.0022), strongly suggesting that the variant is benign. c.1769G>A has been reported in the literature among individuals with ABCB4-related conditions such as Anicteric Cholestasis, low phospholipid-associated cholelithiasis (LPAC), Progressive familial intrahepatic cholestasis (example, Ziol_2008, Tuan Huynh_2019, Colombo_2011, Droge_2017). These data do not allow any conclusion about variant significance. At-least one co-occurrence in cis with another presumably pathogenic variant(s) has been reported (Colombo_2011, ABCB4 c.2284G>T, p.G762X), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (Benign/Likely Benign, n=2; VUS, n=5). Based on the evidence outlined above, the variant was classified as VUS-possibly benign. (less)
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Uncertain significance
(Mar 05, 2018)
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criteria provided, single submitter
Method: clinical testing
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Progressive familial intrahepatic cholestasis type 3
Affected status: no
Allele origin:
inherited
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV000784493.2
First in ClinVar: Jul 13, 2018 Last updated: Dec 11, 2022 |
Number of individuals with the variant: 1
Age: 30-39 years
Sex: female
Geographic origin: Iran
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Uncertain significance
(Mar 05, 2018)
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criteria provided, single submitter
Method: clinical testing
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Cholestasis, intrahepatic, of pregnancy, 3
Affected status: no
Allele origin:
inherited
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV000784494.2
First in ClinVar: Oct 21, 2017 Last updated: Dec 11, 2022 |
Number of individuals with the variant: 1
Age: 30-39 years
Sex: female
Geographic origin: Iran
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Uncertain significance
(Mar 05, 2018)
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criteria provided, single submitter
Method: clinical testing
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Cholecystitis
Affected status: no
Allele origin:
inherited
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV000784495.2
First in ClinVar: Oct 21, 2017 Last updated: Dec 11, 2022 |
Number of individuals with the variant: 1
Age: 30-39 years
Sex: female
Geographic origin: Iran
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Uncertain significance
(Jul 18, 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: SCV000490387.4
First in ClinVar: Dec 06, 2016 Last updated: Jul 29, 2023 |
Comment:
Reported in association with ABCB4-related disorders in several individuals who were heterozygous for R590Q alone, homozygous for R590Q, or heterozygous for R590Q and another variant … (more)
Reported in association with ABCB4-related disorders in several individuals who were heterozygous for R590Q alone, homozygous for R590Q, or heterozygous for R590Q and another variant in the ABCB4 gene (Degiorgio et al., 2007; Ziol et al., 2008; Colombo et al., 2011; Poupon et al., 2013; Degiorgio et al., 2015; Lourebam et al., 2021; Almes et al., 2022; Nayagam et al., 2022; Vitale et al., 2023); 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: 20981092, 22995991, 26324191, 18083082, 27825922, 31127640, 22675952, 25882097, 21119540, 23533021, 25807286, 28776642, 28924228, 28587926, 28765628, 27936482, 19584064, 29761167, 28733223, 31538484, 32893960, 17726488, Jarasvaraparn-2021[CaseReport], Lourembam-2021[CaseReport], 34662886, 35894240, 34942279, 35626323, 36982896, 18482588) (less)
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Uncertain significance
(Nov 21, 2022)
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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: SCV004224026.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
BS1, BP2
Number of individuals with the variant: 4
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Likely benign
(Jul 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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001962060.14
First in ClinVar: Oct 08, 2021 Last updated: Apr 15, 2024 |
Comment:
ABCB4: BS2
Number of individuals with the variant: 4
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Uncertain significance
(Sep 07, 2022)
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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: SCV002115634.2
First in ClinVar: Mar 28, 2022 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 590 of the ABCB4 protein (p.Arg590Gln). … (more)
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 590 of the ABCB4 protein (p.Arg590Gln). This variant is present in population databases (rs45575636, gnomAD 0.7%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with clinical features of ABCB4-related conditions (PMID: 18482588, 21119540, 28733223, 31538484). ClinVar contains an entry for this variant (Variation ID: 13697). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004025143.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
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Pathogenic
(Oct 01, 2009)
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no assertion criteria provided
Method: literature only
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CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000034951.3
First in ClinVar: Apr 04, 2013 Last updated: Oct 21, 2017 |
Comment on evidence:
In 2 of 50 French women with intrahepatic cholestasis of pregnancy (ICP3; 614972), Bacq et al. (2009) identified a homozygous 1769G-A transition in exon 15 … (more)
In 2 of 50 French women with intrahepatic cholestasis of pregnancy (ICP3; 614972), Bacq et al. (2009) identified a homozygous 1769G-A transition in exon 15 of the ABCB4 gene, resulting in an arg590-to-gln (R590Q) substitution in the nucleotide-binding domain. Three additional women with ICP were heterozygous for the R590Q mutation, as was 1 of 214 control chromosomes. The allelic frequency was significantly different between ICP patients and controls (7% vs 0.5%, respectively), yielding an odds ratio of 16.03. Haplotype analysis indicated a founder effect. Ziol et al. (2008) identified a heterozygous R590Q substitution in 3 unrelated women with anicteric cholestasis. Two had cholelithiasis at ages 18 and 51 years, respectively. One developed symptoms after taking oral contraceptives (OCIC; see 614972) and the other had recurrence of symptoms after cholecystectomy (GBD1; 600803). A third woman with the mutation was asymptomatic, but was studied because of increased liver enzymes. Ziol et al. (2008) noted that the R590Q substitution was also found in 4 controls (3%), raising questions about its pathogenicity. (less)
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Pathogenic
(Oct 01, 2009)
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no assertion criteria provided
Method: literature only
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GALLBLADDER DISEASE 1
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000056847.3
First in ClinVar: Apr 04, 2013 Last updated: Oct 21, 2017 |
Comment on evidence:
In 2 of 50 French women with intrahepatic cholestasis of pregnancy (ICP3; 614972), Bacq et al. (2009) identified a homozygous 1769G-A transition in exon 15 … (more)
In 2 of 50 French women with intrahepatic cholestasis of pregnancy (ICP3; 614972), Bacq et al. (2009) identified a homozygous 1769G-A transition in exon 15 of the ABCB4 gene, resulting in an arg590-to-gln (R590Q) substitution in the nucleotide-binding domain. Three additional women with ICP were heterozygous for the R590Q mutation, as was 1 of 214 control chromosomes. The allelic frequency was significantly different between ICP patients and controls (7% vs 0.5%, respectively), yielding an odds ratio of 16.03. Haplotype analysis indicated a founder effect. Ziol et al. (2008) identified a heterozygous R590Q substitution in 3 unrelated women with anicteric cholestasis. Two had cholelithiasis at ages 18 and 51 years, respectively. One developed symptoms after taking oral contraceptives (OCIC; see 614972) and the other had recurrence of symptoms after cholecystectomy (GBD1; 600803). A third woman with the mutation was asymptomatic, but was studied because of increased liver enzymes. Ziol et al. (2008) noted that the R590Q substitution was also found in 4 controls (3%), raising questions about its pathogenicity. (less)
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not provided
(-)
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no classification provided
Method: phenotyping only
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ABCB4-related disorders
Affected status: unknown
Allele origin:
unknown
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GenomeConnect, ClinGen
Accession: SCV000840292.1
First in ClinVar: Oct 14, 2018 Last updated: Oct 14, 2018 |
Comment:
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical … (more)
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Maternal teratogenic exposure (present) , Abnormality of the placenta (present) , Short stature (present) , Delayed puberty (present) , Myopia (present) , Hyperacusis (present) , … (more)
Maternal teratogenic exposure (present) , Abnormality of the placenta (present) , Short stature (present) , Delayed puberty (present) , Myopia (present) , Hyperacusis (present) , Memory impairment (present) , Generalized hypotonia (present) , Abnormality of coordination (present) , Depressivity (present) , Anxiety (present) , Stereotypy (present) , Increased susceptibility to fractures (present) , Joint hypermobility (present) , Abnormality of the curvature of the vertebral column (present) , Abnormality of the musculature of the limbs (present) , Abnormality of muscle physiology (present) , Hypercholesterolemia (present) , Syncope (present) , Cardiomyopathy (present) , Asthma (present) , Abnormality of the intestine (present) , Abnormality of the liver (present) , Abnormality of the stomach (present) , Abnormality of esophagus morphology (present) , Feeding difficulties (present) , Abnormality of reproductive system physiology (present) , Abnormality of the female genitalia (present) , Recurrent infections (present) (less)
Indication for testing: Diagnostic, Cardiomyopathy
Age: 40-49 years
Sex: female
Method: Sanger Sequencing
Testing laboratory: GeneDx
Date variant was reported to submitter: 2017-12-14
Testing laboratory interpretation: Uncertain significance
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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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A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome. | Biyoukar M | JHEP reports : innovation in hepatology | 2022 | PMID: 36277956 |
Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1. | Nayagam JS | Hepatology communications | 2022 | PMID: 35894240 |
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis. | Wang HH | Genes | 2022 | PMID: 35741809 |
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis. | Almes M | Diagnostics (Basel, Switzerland) | 2022 | PMID: 35626323 |
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort. | Mínguez Rodríguez B | Gastroenterologia y hepatologia | 2022 | PMID: 34942279 |
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma. | de Vries E | Liver international : official journal of the International Association for the Study of the Liver | 2020 | PMID: 32893960 |
Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease. | Huynh MT | Revista espanola de enfermedades digestivas | 2019 | PMID: 31538484 |
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset. | Schatz SB | Hepatology communications | 2018 | PMID: 29761167 |
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing. | Stalke A | Clinical genetics | 2018 | PMID: 28776642 |
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy. | Dixon PH | Scientific reports | 2017 | PMID: 28924228 |
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants. | Dröge C | Journal of hepatology | 2017 | PMID: 28733223 |
Large-scale whole-genome sequencing of the Icelandic population. | Gudbjartsson DF | Nature genetics | 2015 | PMID: 25807286 |
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients. | Poupon R | Hepatology (Baltimore, Md.) | 2013 | PMID: 23533021 |
Severe hepatocellular dysfunction in obstetric cholestasis related to combined genetic variation in hepatobiliary transporters. | Zimmer V | Clinical and experimental obstetrics & gynecology | 2012 | PMID: 22675952 |
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. | Colombo C | Journal of pediatric gastroenterology and nutrition | 2011 | PMID: 21119540 |
Genetics of cholestatic liver disease in 2010. | Karlsen TH | Current opinion in gastroenterology | 2010 | PMID: 20042859 |
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy. | Bacq Y | Journal of medical genetics | 2009 | PMID: 19584064 |
ABCB4 sequence variations in young adults with cholesterol gallstone disease. | Nakken KE | Liver international : official journal of the International Association for the Study of the Liver | 2009 | PMID: 19018976 |
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. | Ziol M | Gastroenterology | 2008 | PMID: 18482588 |
Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. | Floreani A | Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver | 2008 | PMID: 18083082 |
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). | Degiorgio D | European journal of human genetics : EJHG | 2007 | PMID: 17726488 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCB4 | - | - | - | - |
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Text-mined citations for rs45575636 ...
HelpRecord last updated Apr 15, 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.