U.S. flag

An official website of the United States government

NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) AND Hypercholesterolemia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 1, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV002051654.10

Allele description [Variation Report for NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)]

NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)

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.757C>T (p.Arg253Trp)
Other names:
NM_000527.5(LDLR):c.757C>T
HGVS:
  • NC_000019.10:g.11106627C>T
  • NG_009060.1:g.22247C>T
  • NM_000527.5:c.757C>TMANE SELECT
  • NM_001195798.2:c.757C>T
  • NM_001195799.2:c.634C>T
  • NM_001195800.2:c.314-765C>T
  • NM_001195803.2:c.376C>T
  • NP_000518.1:p.Arg253Trp
  • NP_000518.1:p.Arg253Trp
  • NP_001182727.1:p.Arg253Trp
  • NP_001182728.1:p.Arg212Trp
  • NP_001182732.1:p.Arg126Trp
  • LRG_274t1:c.757C>T
  • LRG_274:g.22247C>T
  • LRG_274p1:p.Arg253Trp
  • NC_000019.9:g.11217303C>T
  • NM_000527.4:c.757C>T
  • P01130:p.Arg253Trp
  • c.757C>T
Protein change:
R126W
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000111; UniProtKB: P01130#VAR_013952
Molecular consequence:
  • NM_001195800.2:c.314-765C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.757C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.757C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.634C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
no known functional consequence - Comment(s)

Condition(s)

Name:
Hypercholesterolemia
Synonyms:
Primary hypercholesterolemia; Hypercholesterolaemia
Identifiers:
MeSH: D006937; MedGen: C0020443; Human Phenotype Ontology: HP:0003124

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190275CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
no assertion criteria provided
Likely benign
(Jun 1, 2014) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024