NM_000527.4(LDLR):c.2089G>A (p.Ala697Thr) AND Familial hypercholesterolemia 1

Clinical significance:Pathogenic

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:
RCV000508717.1

Allele description [Variation Report for NM_000527.4(LDLR):c.2089G>A (p.Ala697Thr)]

NM_000527.4(LDLR):c.2089G>A (p.Ala697Thr)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.4(LDLR):c.2089G>A (p.Ala697Thr)
HGVS:
  • NC_000019.10:g.11120471G>A
  • NG_009060.1:g.36091G>A
  • NM_000527.4:c.2089G>A
  • NM_001195798.2:c.2089G>A
  • NM_001195799.2:c.1966G>A
  • NM_001195800.2:c.1585G>A
  • NM_001195803.2:c.1606+238G>A
  • NP_000518.1:p.Ala697Thr
  • NP_001182727.1:p.Ala697Thr
  • NP_001182728.1:p.Ala656Thr
  • NP_001182729.1:p.Ala529Thr
  • LRG_274t1:c.2089G>A
  • LRG_274:g.36091G>A
  • LRG_274p1:p.Ala697Thr
  • NC_000019.9:g.11231147G>A
Protein change:
A529T
Links:
dbSNP: rs776217028
NCBI 1000 Genomes Browser:
rs776217028
Molecular consequence:
  • NM_001195803.2:c.1606+238G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.4:c.2089G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.2089G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypercholesterolemia 1 (FHCL1)
Synonyms:
LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000606595Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrumno assertion criteria providedPathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum, SCV000606595.1

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

Last Updated: Apr 12, 2021

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