NM_000384.3(APOB):c.4178C>T (p.Ala1393Val) AND Familial hypercholesterolemia 1

Clinical significance:Uncertain significance (Last evaluated: Apr 14, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000203214.1

Allele description [Variation Report for NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)]

NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)

Gene:
APOB:apolipoprotein B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p24.1
Genomic location:
Preferred name:
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)
HGVS:
  • NC_000002.12:g.21013198G>A
  • NG_011793.1:g.35876C>T
  • NM_000384.3:c.4178C>TMANE SELECT
  • NP_000375.3:p.Ala1393Val
  • NC_000002.11:g.21236070G>A
  • NM_000384.2:c.4178C>T
Protein change:
A1393V
Links:
dbSNP: rs143282164
NCBI 1000 Genomes Browser:
rs143282164
Molecular consequence:
  • NM_000384.3:c.4178C>T - 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
SCV000257682Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Uncertain significance
(Apr 14, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000257682.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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