U.S. flag

An official website of the United States government

NC_000017.11:g.46092442_46290846dup AND Large for gestational age

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:
RCV000161817.3

Allele description [Variation Report for NC_000017.11:g.46092442_46290846dup]

NC_000017.11:g.46092442_46290846dup

Genes:
  • ARL17B:ADP ribosylation factor like GTPase 17B [Gene - HGNC]
  • KANSL1-AS1:KANSL1 antisense RNA 1 [Gene - HGNC]
  • KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
  • LOC129390878:MPRA-validated peak2868 silencer [Gene]
  • LOC126862577:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:44361168-44362367 [Gene]
  • LRRC37A:leucine rich repeat containing 37A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NC_000017.11:g.46092442_46290846dup
HGVS:
  • NC_000017.11:g.46092442_46290846dup
  • NC_000017.10:g.44169808_44368212dup

Condition(s)

Name:
Large for gestational age
Identifiers:
MedGen: C1848395; Human Phenotype Ontology: HP:0001520

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
SCV000191774Institute 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, SCV000191774.2

#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