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NM_000527.5(LDLR):c.314C>T (p.Pro105Leu) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000161953.2

Allele description [Variation Report for NM_000527.5(LDLR):c.314C>T (p.Pro105Leu)]

NM_000527.5(LDLR):c.314C>T (p.Pro105Leu)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.314C>T (p.Pro105Leu)
HGVS:
  • NC_000019.10:g.11105220C>T
  • NG_009060.1:g.20840C>T
  • NM_000527.5:c.314C>TMANE SELECT
  • NM_001195798.2:c.314C>T
  • NM_001195799.2:c.191C>T
  • NM_001195800.2:c.314-2172C>T
  • NM_001195803.2:c.314-1345C>T
  • NP_000518.1:p.Pro105Leu
  • NP_000518.1:p.Pro105Leu
  • NP_001182727.1:p.Pro105Leu
  • NP_001182728.1:p.Ser64Phe
  • LRG_274t1:c.314C>T
  • LRG_274:g.20840C>T
  • LRG_274p1:p.Pro105Leu
  • NC_000019.9:g.11215896C>T
  • NM_000527.4:c.314C>T
Protein change:
P105L
Links:
dbSNP: rs730882079
NCBI 1000 Genomes Browser:
rs730882079
Molecular consequence:
  • NM_001195800.2:c.314-2172C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1345C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.314C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.314C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.191C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
no known functional consequence - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000189528Dept. of Genetics and Pharmacogenomics, Merck Research Labs
no classification provided

(in vitro)
not providednot applicablein vitro

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro

Citations

PubMed

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Thormaehlen AS, Schuberth C, Won HH, Blattmann P, Joggerst-Thomalla B, Theiss S, Asselta R, Duga S, Merlini PA, Ardissino D, Lander ES, Gabriel S, Rader DJ, Peloso GM, Pepperkok R, Kathiresan S, Runz H.

PLoS Genet. 2015 Feb;11(2):e1004855. doi: 10.1371/journal.pgen.1004855. Erratum in: PLoS Genet. 2015 Mar 17;11(3):e1005060. doi: 10.1371/journal.pgen.1005060.

PubMed [citation]
PMID:
25647241
PMCID:
PMC4409815

Details of each submission

From Dept. of Genetics and Pharmacogenomics, Merck Research Labs, SCV000189528.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024