VCV000002878.31 - ClinVar

NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)

Germline

Classification

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.

(18)

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.

Benign/Likely benign

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)

Variation ID: 2878 Accession: VCV000002878.31

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 1p32.3 1: 55039974 (GRCh38) [ NCBI UCSC ] 1: 55505647 (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	Apr 4, 2013	Sep 29, 2024	Jan 31, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_174936.4:c.137G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_777596.2:p.Arg46Leu	missense
NC_000001.11:g.55039974G>T
NC_000001.10:g.55505647G>T
NG_009061.1:g.5428G>T
LRG_275:g.5428G>T
LRG_275t1:c.137G>T	LRG_275p1:p.Arg46Leu
	Q8NBP7:p.Arg46Leu

... more HGVS ... less HGVS

Protein change

R46L

Other names

PCSK9, ARG46LEU (rs11591147)

Canonical SPDI

NC_000001.11:55039973:G:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

Links

OMIM: 607786.0006 ClinGen: CA023110 UniProtKB: Q8NBP7#VAR_017197 VarSome

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
Gene	OMIM	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.
PCSK9		Dosage sensitivity unlikely	No evidence available	GRCh38 GRCh37	1338	1353

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.
Low density lipoprotein cholesterol level quantitative trait locus 1	association (1)	no assertion criteria provided	Mar 20, 2008	RCV000003012.3
Hypercholesterolemia, autosomal dominant, 3	Benign/Likely benign (4)	criteria provided, multiple submitters, no conflicts	Jan 31, 2024	RCV000203182.17
Hypercholesterolemia, familial, 1	Benign (4)	criteria provided, multiple submitters, no conflicts	Aug 22, 2019	RCV000256313.8
not specified	Benign (1)	criteria provided, single submitter	May 8, 2017	RCV000605465.3
Hypocholesterolemia	Pathogenic (1)	no assertion criteria provided	-	RCV000508774.1
not provided	Benign/Likely benign (3)	criteria provided, multiple submitters, no conflicts	Sep 8, 2023	RCV000985896.12
Familial hypercholesterolemia	Benign (2)	criteria provided, multiple submitters, no conflicts	Jul 1, 2022	RCV001523785.3
Hypobetalipoproteinemia	Benign (1)	criteria provided, single submitter	Mar 6, 2018	RCV001099060.4
Cardiovascular phenotype	Benign (1)	criteria provided, single submitter	Mar 16, 2017	RCV002381236.2

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.
Benign (Jun 11, 2015)	criteria provided, single submitter (DGD Variant Analysis Guidelines) Method: clinical testing	Hypercholesterolemia, autosomal dominant, 3 Affected status: unknown Allele origin: unknown	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia Accession: SCV000258263.2 First in ClinVar: Dec 27, 2015 Last updated: Dec 27, 2015
Benign (Mar 01, 2016)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	Familial hypercholesterolemia Affected status: unknown Allele origin: germline	Laboratory of Genetics and Molecular Cardiology, University of São Paulo Study: HipercolBrasil Accession: SCV000588678.1 First in ClinVar: Aug 13, 2017 Last updated: Aug 13, 2017	Publications: PubMed (1) PubMed: 16571601 Observation 1: Comment on evidence: %MAF(ExAC):2.217 Observation 2: Comment on evidence: Assay description:Heterologous cells (HepG2), FACS and WB assays Result: Increase 10-20% LDLR activity (+ 5-10% LDLR at cell surface, +15-20% LDL internalization); normal PCSK9 autocatalytic activity
Benign (Mar 01, 2016)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	Familial hypercholesterolemia Affected status: unknown Allele origin: germline	Fundacion Hipercolesterolemia Familiar Study: SAFEHEART Accession: SCV000607712.1 First in ClinVar: Aug 13, 2017 Last updated: Aug 13, 2017	Publications: PubMed (1) PubMed: 16571601 Observation 1: Comment on evidence: %MAF(ExAC):2.217 Observation 2: Comment on evidence: Heterologous cells (HepG2), FACS and WB assays Result: Increase 10-20% LDLR activity (+ 5-10% LDLR at cell surface, +15-20% LDL interlization); normal PCSK9 autocatalytic activity
Benign (May 08, 2017)	criteria provided, single submitter (GeneDx Variant Classification (06012015)) Method: clinical testing	not specified Affected status: yes Allele origin: germline	GeneDx Accession: SCV000730049.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018	Comment: This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more) This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
Benign (Aug 22, 2019)	criteria provided, single submitter (Wang et al. (Arterioscler Thromb Vasc Biol. 2016)) Method: clinical testing	Hypercholesterolemia, familial, 1 (Autosomal dominant inheritance) Affected status: yes Allele origin: germline	Robarts Research Institute, Western University Accession: SCV000484817.2 First in ClinVar: Dec 06, 2016 Last updated: Sep 11, 2019	Publications: PubMed (1) PubMed: 27765764 Number of individuals with the variant: 1
Benign (Mar 06, 2018)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Hypobetalipoproteinemia Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV001255475.1 First in ClinVar: May 31, 2020 Last updated: May 31, 2020	Comment: This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more) This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
Likely benign (Mar 06, 2018)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Hypercholesterolemia, autosomal dominant, 3 Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000358213.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Comment: This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more) This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. (less)
Benign (Dec 10, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Familial hypercholesterolemia Affected status: unknown Allele origin: germline	Color Diagnostics, LLC DBA Color Health Accession: SCV000690958.2 First in ClinVar: Feb 19, 2018 Last updated: Jun 19, 2021
Benign (Apr 28, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Hypercholesterolemia, autosomal dominant, 3 Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV002798957.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Benign (Jan 31, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Hypercholesterolemia, autosomal dominant, 3 Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000291595.8 First in ClinVar: Jul 01, 2016 Last updated: Feb 14, 2024
Benign (Sep 08, 2023)	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories Accession: SCV002505975.3 First in ClinVar: May 07, 2022 Last updated: Feb 20, 2024
Benign (Mar 16, 2017)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Cardiovascular phenotype Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV002696724.2 First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024	Comment: This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more) This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
Benign (Jul 01, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Familial hypercholesterolemia Affected status: unknown Allele origin: germline	GENinCode PLC Accession: SCV005077864.1 First in ClinVar: Jul 15, 2024 Last updated: Jul 15, 2024
Benign (Mar 01, 2016)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	Familial hypercholesterolemia Affected status: yes Allele origin: germline	Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge Accession: SCV000323030.1 First in ClinVar: Oct 15, 2016 Last updated: Oct 15, 2016	Publications: PubMed (2) PubMed: 16571601‚ 16424354 Comment: 3/100 normolipidemic controls; 0/100 normolipidemic individuals Observation 1: Comment on evidence: %MAF (ExAC):2.217 Observation 2: Comment on evidence: Heterologous cells (HepG2), FACS and WB assays Result: Increase 10-20% LDLR activity (+ 5-10% LDLR at cell surface, +15-20% LDL internalization); normal PCSK9 autocatalytic activity
Benign (Jan 06, 2023)	criteria provided, single submitter (Quest Diagnostics criteria) Method: clinical testing	not provided Affected status: unknown Allele origin: unknown	Quest Diagnostics Nichols Institute San Juan Capistrano Accession: SCV001134562.5 First in ClinVar: Jan 05, 2020 Last updated: Jan 06, 2024	Publications: PubMed (21) PubMed: 33091218‚ 16554528‚ 29997226‚ 29261184‚ 28965616‚ 29083407‚ 28768753‚ 27280970‚ 27218270‚ 27135400‚ 16571601‚ 25412415‚ 26049403‚ 25278291‚ 24507774‚ 23743349‚ 19917273‚ 20579540‚ 19351729‚ 19797716‚ 20031607
Likely benign (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: not provided	not provided (Autosomal dominant inheritance) Affected status: yes Allele origin: germline	Breakthrough Genomics, Breakthrough Genomics Accession: SCV005257970.1 First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024
Pathogenic (-)	no assertion criteria provided Method: research	Hypocholesterolemia Affected status: unknown Allele origin: germline	Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum Accession: SCV000606676.1 First in ClinVar: Oct 01, 2017 Last updated: Oct 01, 2017
association (Mar 20, 2008)	no assertion criteria provided Method: literature only	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000023170.2 First in ClinVar: Apr 04, 2013 Last updated: Jun 23, 2019	Publications: PubMed (2) PubMed: 15654334‚ 18354102 Comment on evidence: Cohen et al. (2006) found that the arg46-to-leu (R46L) substitution (rs11591147) in white subjects in a longitudinal study was associated with significant reduction in plasma … (more) Cohen et al. (2006) found that the arg46-to-leu (R46L) substitution (rs11591147) in white subjects in a longitudinal study was associated with significant reduction in plasma levels of total cholesterol (9%) and LDL cholesterol (15%) (see 603776). Cohen et al. (2006) found that persons who were heterozygous or homozygous for PCSK9(46L) had a 47% reduction in the rate of coronary events (6.3% vs 11.8%). Kathiresan (2008) reported a significant association between the R46L variant and decreased risk of early-onset myocardial infarction in a study of 1,454 patients from 5 different study sites (metaanalysis odds ratio of 0.40; p = 2.0 x 10(-5)). The R46L allele frequency in 1,617 controls was 2.4%. (less)
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Comment:

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

Comment:

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

Comment:

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

Comment:

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.

Comment:

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
PCSK9 rs11591147 R46L loss-of-function variant protects against liver damage in individuals with NAFLD.	Grimaudo S	Liver international : official journal of the International Association for the Study of the Liver	2021	PMID: 33091218
Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke.	Rao AS	Circulation. Genomic and precision medicine	2018	PMID: 29997226
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.	Chora JR	Genetics in medicine : official journal of the American College of Medical Genetics	2018	PMID: 29261184
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.	Lu X	Nature genetics	2017	PMID: 29083407
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.	Pirillo A	Atherosclerosis. Supplements	2017	PMID: 28965616
PCSK9 Loss-of-Function Variants, Low-Density Lipoprotein Cholesterol, and Risk of Coronary Heart Disease and Stroke: Data From 9 Studies of Blacks and Whites.	Kent ST	Circulation. Cardiovascular genetics	2017	PMID: 28768753
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.	Wang J	Arteriosclerosis, thrombosis, and vascular biology	2016	PMID: 27765764
Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.	Poirier S	PloS one	2016	PMID: 27280970
PCSK9 R46L Loss-of-Function Mutation Reduces Lipoprotein(a), LDL Cholesterol, and Risk of Aortic Valve Stenosis.	Langsted A	The Journal of clinical endocrinology and metabolism	2016	PMID: 27218270
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.	Helgadottir A	Nature genetics	2016	PMID: 27135400
The loss-of-function PCSK9 p.R46L genetic variant does not alter glucose homeostasis.	Bonnefond A	Diabetologia	2015	PMID: 26049403
Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.	Tsai CW	The Journal of clinical endocrinology and metabolism	2015	PMID: 25412415
PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study.	Saavedra YG	Arteriosclerosis, thrombosis, and vascular biology	2014	PMID: 25278291
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.	Peloso GM	American journal of human genetics	2014	PMID: 24507774
Regional distribution and metabolic effect of PCSK9 insLEU and R46L gene mutations and apoE genotype.	Awan Z	The Canadian journal of cardiology	2013	PMID: 23743349
PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses.	Benn M	Journal of the American College of Cardiology	2010	PMID: 20579540
Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes.	Strøm TB	Clinica chimica acta; international journal of clinical chemistry	2010	PMID: 19917273
Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.	Huang CC	Circulation. Cardiovascular genetics	2009	PMID: 20031607
Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.	Humphries SE	Clinical chemistry	2009	PMID: 19797716
Genetic and metabolic determinants of plasma PCSK9 levels.	Lakoski SG	The Journal of clinical endocrinology and metabolism	2009	PMID: 19351729
Polymorphisms associated with cholesterol and risk of cardiovascular events.	Kathiresan S	The New England journal of medicine	2008	PMID: 18354102
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors.	Cameron J	Human molecular genetics	2006	PMID: 16571601
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.	Cohen JC	The New England journal of medicine	2006	PMID: 16554528
Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy.	Berge KE	Arteriosclerosis, thrombosis, and vascular biology	2006	PMID: 16424354
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.	Cohen J	Nature genetics	2005	PMID: 15654334
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Text-mined citations for this variant ...

Record last updated Jan 13, 2025

ClinVar Genomic variation as it relates to human health

NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...