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NM_016316.4(REV1):c.351-3232_770dup 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:
RCV000161226.3

Allele description [Variation Report for NM_016316.4(REV1):c.351-3232_770dup]

NM_016316.4(REV1):c.351-3232_770dup

Gene:
REV1:REV1 DNA directed polymerase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_016316.4(REV1):c.351-3232_770dup
HGVS:
  • NC_000002.12:g.99439044_99445701dup
  • NM_001037872.3:c.351-3232_770dup
  • NM_001321454.2:c.351-3232_770dup
  • NM_001321455.2:c.141-3232_560dup
  • NM_001321458.2:c.-1244-3232_-825dup
  • NM_001321459.2:c.-1419-3232_-1000dup
  • NM_001321460.2:c.-1416-3232_-997dup
  • NM_016316.4:c.351-3232_770dupMANE SELECT
  • NC_000002.11:g.100055506_100062163dup
Molecular consequence:
  • NM_001037872.3:c.351-3232_770dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001321454.2:c.351-3232_770dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001321455.2:c.141-3232_560dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001321458.2:c.-1244-3232_-825dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001321459.2:c.-1419-3232_-1000dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001321460.2:c.-1416-3232_-997dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_016316.4:c.351-3232_770dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001037872.3:c.351-3232_770dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001321454.2:c.351-3232_770dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001321455.2:c.141-3232_560dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001321458.2:c.-1244-3232_-825dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001321459.2:c.-1419-3232_-1000dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001321460.2:c.-1416-3232_-997dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_016316.4:c.351-3232_770dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Normal pregnancy
Identifiers:
MedGen: C0232989

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191183Institute 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, SCV000191183.1

#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