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NM_052968.4(APOA5):c.*158C>T

Variation ID: Help
127141
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Jan 2, 2014
Number of submission(s):
1
Condition(s):
Hypertriglyceridemia, susceptibility to
See supporting ClinVar records

Allele(s) Help

NM_052968.4(APOA5):c.*158C>T

Allele ID:
132639
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
  • Chr11: 116789970 (on Assembly GRCh38)
  • Chr11: 116660686 (on Assembly GRCh37)
Other names:
  • +158C-T, 3-PRIME UTR (rs2266788)
HGVS:
  • NG_015894.1:g.7451C>T
  • NM_052968.4:c.*158C>T
  • NC_000011.10:g.116789970G>A (GRCh38)
  • NC_000011.9:g.116660686G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs2266788
Molecular consequence:
NM_052968.4:c.*158C>T: 3 prime UTR variant [Sequence Ontology SO:0001624]
Allele frequency:
  • 1000 Genomes Project 0.12580 (G)
  • 1000 Genomes Project 0.87420
  • The Genome Aggregation Database (gnomAD) 0.93176
  • Trans-Omics for Precision Medicine (TOPMed) 0.92919

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
risk factor
(Jan 2, 2014)
no assertion criteria providedliterature only
  • Hypertriglyceridemia, susceptibility to
germlineOMIMSCV000148905.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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