U.S. flag

An official website of the United States government

Single allele AND Normal pregnancy

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:
RCV000161193.3

Allele description [Variation Report for Single allele]

Gene:
SPATA45:spermatogenesis associated 45 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q32.3
Genomic location:
HGVS:
  • NC_000001.11:g.212826359_212838470del
  • NC_000001.10:g.212999701_213011812del

Condition(s)

Name:
Normal pregnancy
Identifiers:
MedGen: C0232989

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191150Institute 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, SCV000191150.1

#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