ClinVar Genomic variation as it relates to human health
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
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
-
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
Variation ID: 3683 Accession: VCV000003683.26
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 19p13.2 19: 11100252 (GRCh38) [ NCBI UCSC ] 19: 11210928 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Jul 29, 2016 Feb 20, 2024 Apr 30, 2022 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000527.5:c.97C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000518.1:p.Gln33Ter nonsense NM_001195798.2:c.97C>T NP_001182727.1:p.Gln33Ter nonsense NM_001195799.2:c.97C>T NP_001182728.1:p.Gln33Ter nonsense NM_001195800.2:c.97C>T NP_001182729.1:p.Gln33Ter nonsense NM_001195803.2:c.97C>T NP_001182732.1:p.Gln33Ter nonsense NC_000019.10:g.11100252C>T NC_000019.9:g.11210928C>T NG_009060.1:g.15872C>T LRG_274:g.15872C>T LRG_274t1:c.97C>T LRG_274p1:p.Gln33Ter - Protein change
- Q33*
- Other names
- Q12*
- FH Turkey
- FH Turkey/Milan-4
- NM_000527.5(LDLR):c.97C>T
- p.Gln33Ter
- Canonical SPDI
- NC_000019.10:11100251:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
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 | ||
---|---|---|---|---|---|---|
HI score
Help
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. |
|||
LDLR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 4140 |
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. |
---|---|---|---|---|
Pathogenic (11) |
reviewed by expert panel
|
Apr 30, 2022 | RCV000003868.21 | |
Pathogenic (2) |
criteria provided, single submitter
|
Nov 18, 2021 | RCV000786350.4 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Nov 10, 2023 | RCV001034691.11 | |
Pathogenic (1) |
criteria provided, single submitter
|
Apr 21, 2022 | RCV002381238.1 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Apr 30, 2022)
|
reviewed by expert panel
Method: curation
|
Hypercholesterolemia, familial, 1
(Semidominant inheritance)
Affected status: unknown
Allele origin:
germline
|
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel
Accession: SCV002506409.1
First in ClinVar: May 07, 2022 Last updated: May 07, 2022 |
Comment:
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter) variant is classified as pathogenic for Familial Hypercholesterolemia by applying evidence code PVS1, PS3, PS4, PM2, PP1 and PP4 as defined by the … (more)
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter) variant is classified as pathogenic for Familial Hypercholesterolemia by applying evidence code PVS1, PS3, PS4, PM2, PP1 and PP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: PM2 - PopMax MAF = 0.00001759 (0.002%) in European non-Finnish exomes (gnomAD v2.1.1). PVS1 - Variant leads to stop at codon 33, amino-terminal of amino acid 830. PS3 - Two studies contribute to PS3 attribution. One (PMID:2088165) report a level 2 assay performed on homozygous patient's fibroblasts with radiolabeled LDL consistent with damaging effect of the variant (< 2% LDLR activity). The second reports a level 1 assay perfomed on Heterologous cells (CHO-ldlA7). FACS, CLSM and WB results in 10% expression, binding and uptake of LDLR which is retained in the ER. PS4 - Variant meets PM2 and is identified in at least 10 unrelated index cases from CGMC UFGOD (APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière). 8 cases fulfil SB possible criteria and 14 fulfil DLCN >= 6 criteria. PP1_Strong- Variant segregate with FH in at least 3 informatives meiosis (LDL-C > 75th percentile) from 1 family from CGMC, UFGOD (APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière). In the same Laboratory segregation with FH was observed in 1 informative meiosis from 7 families. PP4 - Variant meets PM2 and is identified in 22 unrelated index cases from CGMC UFGOD (APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière). (less)
|
|
Pathogenic
(Mar 25, 2016)
|
criteria provided, single submitter
Method: literature only
|
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
LDLR-LOVD, British Heart Foundation
Accession: SCV000294463.2
First in ClinVar: Jul 29, 2016 Last updated: Dec 26, 2017 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 1
Observation 3:
Number of individuals with the variant: 1
Observation 4:
Number of individuals with the variant: 1
Observation 5:
Number of individuals with the variant: 1
|
|
Pathogenic
(Mar 30, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Hypercholesterolemia
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille
Accession: SCV000583630.1
First in ClinVar: Apr 16, 2017 Last updated: Apr 16, 2017 |
Comment:
ACMG Guidelines: Pathogenic (ii)
Number of individuals with the variant: 34
Clinical Features:
Hyperbetalipoproteinemia (present) , Hypercholesterolemia (present)
Indication for testing: Familial Hypercholesterolemia
Sex: mixed
Geographic origin: France
Comment on evidence:
Dutch Lipid Clinic Scoring : Definite FH
Secondary finding: no
|
|
Pathogenic
(Mar 01, 2016)
|
criteria provided, single submitter
Method: research
|
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607415.1 First in ClinVar: Sep 30, 2017 Last updated: Sep 30, 2017 |
Observation 1:
Comment on evidence:
%MAF(ExAC):0.001651
Observation 2:
Comment on evidence:
Hmz patients' fibroblasts, 125I-LDL assays
Result:
<2% LDLR activity
|
|
Pathogenic
(Dec 07, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hypercholesterolemia, familial, 1
Affected status: yes
Allele origin:
germline
|
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen
Accession: SCV000987040.1
First in ClinVar: Aug 31, 2019 Last updated: Aug 31, 2019 |
Comment:
At protein level, the mutation leads to a premature termination of protein biosynthesis after 33 amino acids (12th amino acid of the mature protein). This … (more)
At protein level, the mutation leads to a premature termination of protein biosynthesis after 33 amino acids (12th amino acid of the mature protein). This change has already been described in the literature as FH Turkey and FH Milan-4, as well as in patients with familial hypercholesterolemia and is associated with elevated cholesterol and LDL-C levels. Most likely the mutation leads to a complete loss of LDL receptor activity due to premature degradation. PMID: 1301940, 15701167 (less)
|
|
Pathogenic
(Jul 02, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hypercholesterolemia, familial, 1
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002017112.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
|
Pathogenic
(Jul 24, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Familial hypercholesterolemia
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV004358465.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 2 in the LDLR type A repeat 1 of the LDLR gene, creating a premature translation stop signal. … (more)
This variant changes 1 nucleotide in exon 2 in the LDLR type A repeat 1 of the LDLR gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. An experimental functional study using transfected CHO-ldlA7 cells has shown that this variant causes a significant reduction in LDLR activity, LDL uptake, and LDL binding (PMID: 28645073). This LDLR variant has been reported in over 10 heterozygous individuals affected with familial hypercholesterolemia (PMID: 15241806, 15791167, 16250003, 18096825, 23375686, 34037665). This variant has also been observed in homozygous state in several individuals affected with severe homozygous familial hypercholesterolemia (PMID: 2088165, 1301940, 1301956, 9974426, 24088637, 27784735). This variant has been identified in 2/251156 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of LDLR function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
Pathogenic
(Dec 16, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hypercholesterolemia, familial, 1
Affected status: yes
Allele origin:
germline
|
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix
Accession: SCV000503101.1
First in ClinVar: Jul 29, 2016 Last updated: Jul 29, 2016 |
Comment:
subjects mutated among 2600 FH index cases screened = 12 , family members = 6 with co-segregation
Number of individuals with the variant: 12
|
|
Pathogenic
(Mar 01, 2016)
|
criteria provided, single submitter
Method: research
|
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Laboratory of Genetics and Molecular Cardiology, University of São Paulo
Study: HipercolBrasil
Accession: SCV000588484.1 First in ClinVar: Aug 13, 2017 Last updated: Aug 13, 2017 |
Observation 1:
Comment on evidence:
%MAF(ExAC):0.001651
Observation 2:
Comment on evidence:
Assay description:Hmz patients' fibroblasts, 125I-LDL assays
Result:
<2% LDLR activity
|
|
Pathogenic
(May 24, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hypercholesterolemia, familial, 1
Affected status: yes
Allele origin:
germline
|
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II
Accession: SCV001653581.1
First in ClinVar: Jun 08, 2021 Last updated: Jun 08, 2021 |
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
|
|
Pathogenic
(Apr 21, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002694005.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The p.Q33* pathogenic mutation (also known as c.97C>T), located in coding exon 2 of the LDLR gene, results from a C to T substitution at … (more)
The p.Q33* pathogenic mutation (also known as c.97C>T), located in coding exon 2 of the LDLR gene, results from a C to T substitution at nucleotide position 97. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This alteration has been reported in association with familial hypercholesterolemia across various ethnicities (also reported as p.Q12X) (Hobbs HH, Annu. Rev. Genet. 1990 ; 24:133-70; Mozas P, Hum. Mutat. 2004 Aug; 24(2):187; Zakharova FM, BMC Med. Genet. 2005 Feb;6:6; Fouchier SW, Hum. Mutat. 2005 Dec; 26(6):550-6). This alteration was also reported in a homozygous state in two individuals who both had total cholesterol levels greater than 600 mg/dl (Loux N, Hum. Mutat. 1992;1(4):325-32; Meng X, Indian J Ophthalmol 2013 Dec; 61(12):770-1). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
|
|
Pathogenic
(Nov 18, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV002027963.2
First in ClinVar: Nov 29, 2021 Last updated: Mar 04, 2023 |
Comment:
Also known as p.(Q12*), FH Turkey and FH Milan-4; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted … (more)
Also known as p.(Q12*), FH Turkey and FH Milan-4; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Published functional studies show that this variant results in loss of protein function (Jiang et al., 2017); Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 3683; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 9974426, 15701167, 24088637, 25487149, 15241806, 1301940, 1301956, 32977124, 33740630, 34037665, 31358055, 28645073, 2088165) (less)
|
|
Pathogenic
(Nov 10, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Familial hypercholesterolemia
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000544678.7
First in ClinVar: Apr 16, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln33*) in the LDLR gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Gln33*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). This variant is present in population databases (rs121908024, gnomAD 0.002%), including at least one homozygous and/or hemizygous individual. This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 1301940, 15241806, 15701167, 18096825, 24088637, 27784735). This variant is also known as p.Gln12X. ClinVar contains an entry for this variant (Variation ID: 3683). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: research
|
Familial hypercholesterolemia
Affected status: unknown
Allele origin:
germline
|
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum
Accession: SCV000606015.1
First in ClinVar: Sep 30, 2017 Last updated: Sep 30, 2017 |
|
|
Pathogenic
(Nov 01, 1988)
|
no assertion criteria provided
Method: literature only
|
FH TURKEY
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000024033.3
First in ClinVar: Apr 04, 2013 Last updated: Jun 23, 2019 |
Comment on evidence:
In a homozygote with familial hypercholesterolemia (FHCL1; 143890) of Turkish ancestry, Leitersdorf and Hobbs (1990) identified a CAG-to-TAG change in codon 12 converting glutamine to … (more)
In a homozygote with familial hypercholesterolemia (FHCL1; 143890) of Turkish ancestry, Leitersdorf and Hobbs (1990) identified a CAG-to-TAG change in codon 12 converting glutamine to a stop codon. (less)
|
|
Pathogenic
(Jun 09, 2017)
|
no assertion criteria provided
Method: provider interpretation
|
not provided
Affected status: unknown
Allele origin:
germline
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000925133.1
First in ClinVar: Jun 30, 2019 Last updated: Jun 30, 2019 |
Comment:
p.Gln33* (also known as p.Gln12X in the literature) (c.97C>T) in the LDLR gene (NM_000527.4) Given that this variant truncates the LDL receptor, the very strong … (more)
p.Gln33* (also known as p.Gln12X in the literature) (c.97C>T) in the LDLR gene (NM_000527.4) Given that this variant truncates the LDL receptor, the very strong case data and the variant's rarity in large population databases, we consider this variant pathogenic and we do feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). The variant has been seen in at least 25 unrelated cases of FH (not including this patient's family). There is strong cases data. This variant is listed in ClinVar and is classified as pathogenic by Invitae, LDL-LOVD British Heart Foundation (seen in 5 patients) and the Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix (seen in 12 patients from 6 families out of 2600 index cases). Loux et al (1992, PMID1301940) found this variant (reported as p.Gln12*) in one of seven families with FH. The proband had homozygous FH, with total cholesterol levels in the 600s. Mozas et al (2004, PMID 15241806) found this variant in 2 out of 476 Spanish patients with FH. Zakharova et al (2005, PMID 15701167) found this variant in 2 out of 45 Russian patients (from the same family) with a clinical diagnosis of FH. Junyent et al (2008, PMID 18096825) found this variant in 2 of 146 Spanish patients. It is unclear whether or not these patients are related. Meng et al (2013, PMID 24088637) present a case report of a 12-year-old male with apparently Compound homozygous FH, and his father with heterozygous FH and the same variant. Sánchez-Hernández et al (2016, PMID 27784735) found this variant in 4 out of 97 patients: this variant was present in 2 patients in the homozygous form and 2 patient in the compound heterozygous form. Thirteen other variants at this and nearby codons (p.Glu28Ter, p.Arg29Ter, p.Glu31Ter, p.Glu31Lys, p.Glu31Aspfs, p.Phe32Cys, p.Gln33Hisfs, p.Cys34Gly, p.Cys34Ser, p.Cys34Ter, p.Gln35Ter, p.Asp36Glufs, p.Asp36Glu) are considered pathogenic in ClinVar. This variant is completely conserved across species and nearby residues are also strongly conserved. The variant is reported online in the Genome Aggregation Consortium Dataset (gnomAD; http://gnomad.broadinstitute.org/), which currently includes variant calls on >140,000 unrelated individuals of African, Asian, European, Ashkenazi, Latino descent. It is present in 1 European individual in the homozygous form out of 122,871 individuals in this database. The phenotype of those individuals is not publicly available. The dataset is comprised of multiple cohorts, some of which were recruited from the general population, others were enriched for common cardiovascular disease. This variant was absent from 288 controls (Loux et al 1992; Junyent et al 2008) (less)
|
|
Pathogenic
(Mar 18, 2021)
|
no assertion criteria provided
Method: clinical testing
|
Familial hypercholesterolemia
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV002086359.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
|
|
click to load more click to collapse |
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 |
---|---|---|---|---|
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis. | Sturm AC | JAMA cardiology | 2021 | PMID: 34037665 |
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features. | Bertolini S | Atherosclerosis | 2020 | PMID: 32977124 |
Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio. | Di Taranto MD | Clinical chemistry and laboratory medicine | 2019 | PMID: 30710474 |
Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene. | Jiang L | Atherosclerosis | 2017 | PMID: 28645073 |
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. | Sánchez-Hernández RM | Circulation. Cardiovascular genetics | 2016 | PMID: 27784735 |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. | Do R | Nature | 2015 | PMID: 25487149 |
Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: first report from China. | Meng X | Indian journal of ophthalmology | 2013 | PMID: 24088637 |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. | Bertolini S | Atherosclerosis | 2013 | PMID: 23375686 |
Molecular spectrum of autosomal dominant hypercholesterolemia in France. | Marduel M | Human mutation | 2010 | PMID: 20809525 |
Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect. | Junyent M | Arteriosclerosis, thrombosis, and vascular biology | 2008 | PMID: 18096825 |
Update of the molecular basis of familial hypercholesterolemia in The Netherlands. | Fouchier SW | Human mutation | 2005 | PMID: 16250003 |
Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. | Zakharova FM | BMC medical genetics | 2005 | PMID: 15701167 |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. | Mozas P | Human mutation | 2004 | PMID: 15241806 |
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia. | Bertolini S | Arteriosclerosis, thrombosis, and vascular biology | 1999 | PMID: 9974426 |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. | Hobbs HH | Human mutation | 1992 | PMID: 1301956 |
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method. | Loux N | Human mutation | 1992 | PMID: 1301940 |
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. | Hobbs HH | Annual review of genetics | 1990 | PMID: 2088165 |
Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia. | Leitersdorf E | Proceedings of the National Academy of Sciences of the United States of America | 1988 | PMID: 3263645 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/b06630f4-ec3c-49d3-9864-25957fc07c36 | - | - | - | - |
click to load more click to collapse |
Text-mined citations for this variant ...
HelpRecord last updated Mar 17, 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.