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NC_000017.11:g.46084075_46502770dup 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:
RCV000161811.3

Allele description [Variation Report for NC_000017.11:g.46084075_46502770dup]

NC_000017.11:g.46084075_46502770dup

Genes:
  • ARL17A:ADP ribosylation factor like GTPase 17A [Gene - HGNC]
  • 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]
  • LOC112533643:Sharpr-MPRA regulatory region 7330 [Gene]
  • LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]
  • LRRC37A:leucine rich repeat containing 37A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NC_000017.11:g.46084075_46502770dup
HGVS:
  • NC_000017.11:g.46084075_46502770dup
  • NC_000017.10:g.44161441_44580136dup

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191768Institute 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, SCV000191768.2

#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