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rs137853964

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common in clinvar


Make rs137853964(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11129602
GeneLDLR
is asnp
is mentioned by
dbSNPrs137853964
ebirs137853964
HLIrs137853964
Exacrs137853964
Varsomers137853964
Maprs137853964
PheGenIrs137853964
hapmaprs137853964
1000 genomesrs137853964
hgdprs137853964
ensemblrs137853964
gopubmedrs137853964
geneviewrs137853964
scholarrs137853964
googlers137853964
pharmgkbrs137853964
gwascentralrs137853964
openSNPrs137853964
23andMers137853964
23andMe allrs137853964
SNP Nexus

SNPshotrs137853964
SNPdbers137853964
MSV3drs137853964
GWAS Ctlgrs137853964
GMAF0.0004591
Max Magnitude4
rs137853964, also known as c.2479G>A, p.Val827Ile or V827I, is a SNP in the low density lipoprotein receptor LDLR gene.

This variant in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191]

This SNP is being studied in participants in the NIH ClinSeq program.[PMID 19602640OA-icon.png]

ClinVar
Risk rs137853964(A;A)
Alt rs137853964(A;A)
Reference rs137853964(G;G)
Significance Other
Disease Familial hypercholesterolemia not provided Hypercholesterolaemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided Hypercholesterolaemia
Reversed 0
HGVS NC_000019.9:g.11240278G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000030135.2, RCV000058923.2, RCV000148585.1,


[PMID 15823] Beta-adrenergic stimulation of cyclic AMP content and parathyroid hormone release from isolated bovine parathyroid cells.

[PMID 10735632] Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

[PMID 15701167OA-icon.png] Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

[PMID 18400033] Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

[PMID 19026292] Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.

[PMID 19118540] Evaluation of high-resolution melting analysis for screening the LDL receptor gene.