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NM_005100.4(AKAP12):c.163-8647_163-5271del AND Preeclampsia

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000161457.3

Allele description [Variation Report for NM_005100.4(AKAP12):c.163-8647_163-5271del]

NM_005100.4(AKAP12):c.163-8647_163-5271del

Gene:
AKAP12:A-kinase anchoring protein 12 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q25.1
Genomic location:
Preferred name:
NM_005100.4(AKAP12):c.163-8647_163-5271del
HGVS:
  • NC_000006.12:g.151297100_151300476del
  • NG_029875.1:g.62102_65478del
  • NM_005100.4:c.163-8647_163-5271delMANE SELECT
  • NC_000006.11:g.151618235_151621611del
Molecular consequence:
  • NM_005100.4:c.163-8647_163-5271del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Preeclampsia
Identifiers:
MONDO: MONDO:0005081; MedGen: C0032914; OMIM: PS189800; Human Phenotype Ontology: HP:0100602

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191414Institute of Molecular and Cell Biology, University of Tartu - Kasak2014
no classification provided
not providedunknowncase-control

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcase-control

Citations

PubMed

Extensive load of somatic CNVs in the human placenta.

Kasak L, Rull K, Vaas P, Teesalu P, Laan M.

Sci Rep. 2015 Feb 10;5:8342. doi: 10.1038/srep08342.

PubMed [citation]
PMID:
25666259
PMCID:
PMC4914949

Details of each submission

From Institute of Molecular and Cell Biology, University of Tartu - Kasak2014, SCV000191414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024