NC_000017.11:g.46092442_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:: RCV000161818.3

Allele description [Variation Report for NC_000017.11:g.46092442_46502770dup]

NC_000017.11:g.46092442_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.46092442_46502770dup

HGVS:

NC_000017.11:g.46092442_46502770dup
NC_000017.10:g.44169808_44580136dup

Condition(s)

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

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Prosthecina avita histone H3 gene, partial cds
Prosthecina avita histone H3 gene, partial cds
gi|84683158|gb|DQ280113.1|

Nucleotide
Mus musculus tudor domain containing 1 (Tdrd1), transcript variant 3, mRNA
Mus musculus tudor domain containing 1 (Tdrd1), transcript variant 3, mRNA
gi|268607548|ref|NM_001002241.2|

Nucleotide
tudor domain-containing protein 1 isoform X1 [Mus musculus]
tudor domain-containing protein 1 isoform X1 [Mus musculus]
gi|569008098|ref|XP_006527539.1|

Protein
tudor domain-containing protein 1 [Mus musculus]
tudor domain-containing protein 1 [Mus musculus]
gi|50355700|ref|NP_001002240.1|

Protein
Aeromonas salmonicida subsp. masoucida strain ATCC27013 RNA polymerase beta subu...
Aeromonas salmonicida subsp. masoucida strain ATCC27013 RNA polymerase beta subunit (rpoB) gene, partial cds
gi|90568553|gb|DQ448287.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000191775	Institute of Molecular and Cell Biology, University of Tartu - Kasak2014	no classification provided	not provided	unknown	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000191775

Institute of Molecular and Cell Biology, University of Tartu - Kasak2014

no classification provided

not provided

unknown

case-control

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	case-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, SCV000191775.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	Blood	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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