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CM000665.1:g.100351696_100437892dup 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:
RCV000161303.2

Allele description [Variation Report for CM000665.1:g.100351696_100437892dup]

CM000665.1:g.100351696_100437892dup

Genes:
LOC129937149:ATAC-STARR-seq lymphoblastoid active region 20162 [Gene]
LOC129937150:ATAC-STARR-seq lymphoblastoid active region 20163 [Gene]
ADGRG7:adhesion G protein-coupled receptor G7 [Gene - OMIM - HGNC]
TFG:trafficking from ER to golgi regulator [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q12.2
Genomic location:
Preferred name:
CM000665.1:g.100351696_100437892dup
HGVS:
  • CM000665.1:g.100351696_100437892dup
  • CM000665.1:g.100351696_100437892dup
  • NC_000003.11:g.100351696_100437892dup
  • NC_000003.12:g.100632852_100719048dup

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
SCV000191260Institute 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, SCV000191260.1

#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: May 7, 2024