NM_002543.3(OLR1):c.501G>C (p.Lys167Asn) AND Myocardial infarction

Clinical significance:risk factor (Last evaluated: Mar 28, 2003)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007409.2

Allele description [Variation Report for NM_002543.3(OLR1):c.501G>C (p.Lys167Asn)]

NM_002543.3(OLR1):c.501G>C (p.Lys167Asn)

Gene:
OLR1:oxidized low density lipoprotein receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.2
Genomic location:
Preferred name:
NM_002543.3(OLR1):c.501G>C (p.Lys167Asn)
HGVS:
  • NC_000012.12:g.10160849C>G
  • NG_016743.1:g.16343G>C
  • NM_001172632.1:c.425-387G>C
  • NM_002543.3:c.501G>C
  • NP_002534.1:p.Lys167Asn
  • NC_000012.11:g.10313448C>G
  • P78380:p.Lys167Asn
Protein change:
K167N; LYS167ASN
Links:
UniProtKB: P78380#VAR_023200; OMIM: 602601.0002; dbSNP: rs11053646
NCBI 1000 Genomes Browser:
rs11053646
Molecular consequence:
  • NM_001172632.1:c.425-387G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002543.3:c.501G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myocardial infarction
Synonyms:
Myocardial infarction, susceptibility to; Heart attack; MI
Identifiers:
MedGen: C0027051; Human Phenotype Ontology: HP:0001658

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027609OMIMno assertion criteria providedrisk factor
(Mar 28, 2003)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Oxidized LDL receptor gene (OLR1) is associated with the risk of myocardial infarction.

Tatsuguchi M, Furutani M, Hinagata J, Tanaka T, Furutani Y, Imamura S, Kawana M, Masaki T, Kasanuki H, Sawamura T, Matsuoka R.

Biochem Biophys Res Commun. 2003 Mar 28;303(1):247-50.

PubMed [citation]
PMID:
12646194

Details of each submission

From OMIM, SCV000027609.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Tatsuguchi et al. (2003) identified a single nucleotide polymorphism in the LOX1 gene, a 501G-C transversion, resulting in a lys167-to-asn (K167N) substitution. In 102 patients with a history of myocardial infarction (608446), the authors found a significantly higher frequency (38.2%) of the 501G-C polymorphism compared to 102 controls (17.6%). The odds ratio for the risk of MI associated with the 501G-C change was 2.89.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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