GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 AND See cases

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000445741.1

Allele description [Variation Report for GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1]

GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1

Genes:
  • AFF1:AF4/FMR2 family member 1 [Gene - OMIM - HGNC]
  • ABCG2:ATP binding cassette subfamily G member 2 (Junior blood group) [Gene - OMIM - HGNC]
  • BANK1:B cell scaffold protein with ankyrin repeats 1 [Gene - OMIM - HGNC]
  • DDIT4L:DNA damage inducible transcript 4 like [Gene - OMIM - HGNC]
  • DNAJB14:DnaJ heat shock protein family (Hsp40) member B14 [Gene - OMIM - HGNC]
  • FAM13A-AS1:FAM13A antisense RNA 1 [Gene - OMIM - HGNC]
  • GPRIN3:GPRIN family member 3 [Gene - OMIM - HGNC]
  • H2AZ1:H2A.Z variant histone 1 [Gene - OMIM - HGNC]
  • HERC3:HECT and RLD domain containing E3 ubiquitin protein ligase 3 [Gene - OMIM - HGNC]
  • HERC5:HECT and RLD domain containing E3 ubiquitin protein ligase 5 [Gene - OMIM - HGNC]
  • HERC6:HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 [Gene - OMIM - HGNC]
  • PDLIM5:PDZ and LIM domain 5 [Gene - OMIM - HGNC]
  • PYURF:PIGY upstream reading frame [Gene - HGNC]
  • RAP1GDS1:Rap1 GTPase-GDP dissociation stimulator 1 [Gene - OMIM - HGNC]
  • ARHGAP24:Rho GTPase activating protein 24 [Gene - OMIM - HGNC]
  • SPARCL1:SPARC like 1 [Gene - OMIM - HGNC]
  • SMARCAD1:SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [Gene - OMIM - HGNC]
  • WDFY3:WD repeat and FYVE domain containing 3 [Gene - OMIM - HGNC]
  • ADH1A:alcohol dehydrogenase 1A (class I), alpha polypeptide [Gene - OMIM - HGNC]
  • ADH1B:alcohol dehydrogenase 1B (class I), beta polypeptide [Gene - OMIM - HGNC]
  • ADH1C:alcohol dehydrogenase 1C (class I), gamma polypeptide [Gene - OMIM - HGNC]
  • ADH4:alcohol dehydrogenase 4 (class II), pi polypeptide [Gene - OMIM - HGNC]
  • ADH5:alcohol dehydrogenase 5 (class III), chi polypeptide [Gene - OMIM - HGNC]
  • ADH6:alcohol dehydrogenase 6 (class V) [Gene - OMIM - HGNC]
  • ADH7:alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide [Gene - OMIM - HGNC]
  • ATOH1:atonal bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • BMPR1B:bone morphogenetic protein receptor type 1B [Gene - OMIM - HGNC]
  • C4orf17:chromosome 4 open reading frame 17 [Gene - HGNC]
  • C4orf36:chromosome 4 open reading frame 36 [Gene - HGNC]
  • CCSER1:coiled-coil serine rich protein 1 [Gene - HGNC]
  • DMP1:dentin matrix acidic phosphoprotein 1 [Gene - OMIM - HGNC]
  • DSPP:dentin sialophosphoprotein [Gene - OMIM - HGNC]
  • DAPP1:dual adaptor of phosphotyrosine and 3-phosphoinositides 1 [Gene - OMIM - HGNC]
  • EMCN:endomucin [Gene - OMIM - HGNC]
  • EIF4E:eukaryotic translation initiation factor 4E [Gene - OMIM - HGNC]
  • FAM13A:family with sequence similarity 13 member A [Gene - OMIM - HGNC]
  • GRID2:glutamate ionotropic receptor delta type subunit 2 [Gene - OMIM - HGNC]
  • HPGDS:hematopoietic prostaglandin D synthase [Gene - OMIM - HGNC]
  • HSD17B11:hydroxysteroid 17-beta dehydrogenase 11 [Gene - OMIM - HGNC]
  • HSD17B13:hydroxysteroid 17-beta dehydrogenase 13 [Gene - OMIM - HGNC]
  • IBSP:integrin binding sialoprotein [Gene - OMIM - HGNC]
  • KLHL8:kelch like family member 8 [Gene - OMIM - HGNC]
  • LAMTOR3:late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 [Gene - OMIM - HGNC]
  • MANBA:mannosidase beta [Gene - OMIM - HGNC]
  • MEPE:matrix extracellular phosphoglycoprotein [Gene - OMIM - HGNC]
  • METAP1:methionyl aminopeptidase 1 [Gene - OMIM - HGNC]
  • MTTP:microsomal triglyceride transfer protein [Gene - OMIM - HGNC]
  • MAPK10:mitogen-activated protein kinase 10 [Gene - OMIM - HGNC]
  • MMRN1:multimerin 1 [Gene - OMIM - HGNC]
  • NFKB1:nuclear factor kappa B subunit 1 [Gene - OMIM - HGNC]
  • NAP1L5:nucleosome assembly protein 1 like 5 [Gene - OMIM - HGNC]
  • NUDT9:nudix hydrolase 9 [Gene - OMIM - HGNC]
  • PIGY:phosphatidylinositol glycan anchor biosynthesis class Y [Gene - OMIM - HGNC]
  • PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]
  • PPP3CA:protein phosphatase 3 catalytic subunit alpha [Gene - OMIM - HGNC]
  • PPM1K:protein phosphatase, Mg2+/Mn2+ dependent 1K [Gene - OMIM - HGNC]
  • PTPN13:protein tyrosine phosphatase non-receptor type 13 [Gene - OMIM - HGNC]
  • PDHA2:pyruvate dehydrogenase E1 subunit alpha 2 [Gene - OMIM - HGNC]
  • SPP1:secreted phosphoprotein 1 [Gene - OMIM - HGNC]
  • SLC10A6:solute carrier family 10 member 6 [Gene - OMIM - HGNC]
  • SLC39A8:solute carrier family 39 member 8 [Gene - OMIM - HGNC]
  • STPG2:sperm tail PG-rich repeat containing 2 [Gene - HGNC]
  • SNCA:synuclein alpha [Gene - OMIM - HGNC]
  • TRMT10A:tRNA methyltransferase 10A [Gene - OMIM - HGNC]
  • TSPAN5:tetraspanin 5 [Gene - OMIM - HGNC]
  • TIGD2:tigger transposable element derived 2 [Gene - OMIM - HGNC]
  • UNC5C:unc-5 netrin receptor C [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
4q21.23-24
Genomic location:
Chr4: 85805268 - 103678797 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1
HGVS:
    Links:
    dbVar: nssv13642177; dbVar: nsv2773758
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000502080ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratoriesno assertion criteria providedPathogenicnot providedclinical testing

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000502080.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1not providedyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Dec 17, 2019

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