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NM_001267803.1(PAAF1):c.*451_*70114dup 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:
RCV000161633.3

Allele description [Variation Report for NM_001267803.1(PAAF1):c.*451_*70114dup]

NM_001267803.1(PAAF1):c.*451_*70114dup

Genes:
  • LOC130006404:ATAC-STARR-seq lymphoblastoid active region 5246 [Gene]
  • LOC130006405:ATAC-STARR-seq lymphoblastoid active region 5247 [Gene]
  • LOC130006406:ATAC-STARR-seq lymphoblastoid active region 5248 [Gene]
  • LOC130006402:ATAC-STARR-seq lymphoblastoid silent region 3749 [Gene]
  • LOC130006403:ATAC-STARR-seq lymphoblastoid silent region 3750 [Gene]
  • LOC130006407:ATAC-STARR-seq lymphoblastoid silent region 3751 [Gene]
  • LOC130006408:ATAC-STARR-seq lymphoblastoid silent region 3752 [Gene]
  • DNAJB13:DnaJ heat shock protein family (Hsp40) member B13 [Gene - OMIM - HGNC]
  • PAAF1:proteasomal ATPase associated factor 1 [Gene - OMIM - HGNC]
  • UCP2:uncoupling protein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_001267803.1(PAAF1):c.*451_*70114dup
HGVS:
  • NC_000011.10:g.73927813_73997476dup
  • CM000673.1:g.73638858_73708521dup
  • CM000673.1:g.73638858_73708521dup
  • NC_000011.9:g.73638858_73708521dup

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
SCV000191590Institute 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, SCV000191590.1

#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