NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382

Variation ID: Help
18061
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382

Allele ID:
33100
Variant type:
Insertion
Cytogenetic location:
17q23
Genomic location:
  • Chr17: 63488531 - 63488532 (on Assembly GRCh38)
  • Chr17: 61565892 - 61565893 (on Assembly GRCh37)
Other names:
  • ACE/ID polymorphism
  • INS/DEL (rs1799752)
HGVS:
  • NG_011648.1:g.16459_16460insAF118569.1:g.14094_14382
  • NM_000789.3:c.2306-117_2306-116insAF118569.1:g.14094_14382
  • NC_000017.11:g.63488531_63488532insAF118569.1:g.14094_14382 (GRCh38)
  • NC_000017.10:g.61565892_61565893insAF118569.1:g.14094_14382 (GRCh37)
Note:
287-bp Insertion/Deletion polymorphism (I/D) in intron 16 of the ACE gene.
Links:
NCBI 1000 Genomes Browser:
rs4340
Molecular consequence:
NM_000789.3:c.2306-117_2306-116insAF118569.1:g.14094_14382: intron variant [Sequence Ontology SO:0001627]

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
Benign
(Feb 17, 2009)
no assertion criteria providedliterature only
  • ANGIOTENSIN I-CONVERTING ENZYME INSERTION/DELETION POLYMORPHISM
germlineOMIMSCV000039976.2
risk factor
(Feb 17, 2009)
no assertion criteria providedliterature only
  • Myocardial infarction[MedGen]
germlineOMIMSCV000039977.2
risk factor
(Feb 17, 2009)
no assertion criteria providedliterature only
  • Microvascular complications of diabetes 3[MedGen | OMIM]
germlineOMIMSCV000039978.2
risk factor
(Feb 17, 2009)
no assertion criteria providedliterature only
  • Stroke, hemorrhagic, susceptibility to
germlineOMIMSCV000039979.2
risk factor
(Feb 17, 2009)
no assertion criteria providedliterature only
  • Ischemic stroke, susceptibility to
germlineOMIMSCV000039980.2
Pathogenic
(Feb 17, 2009)
no assertion criteria providedliterature only
  • Severe acute respiratory syndrome, progression of[MedGen]
germlineOMIMSCV000039981.2
risk factor
(Feb 17, 2009)
no assertion criteria providedliterature only
  • Susceptibility to progression to renal failure in IgA nephropathy[MedGen]
germlineOMIMSCV000039982.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017