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GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000239796.1

Allele description [Variation Report for GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4]

GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4

Genes:
  • ATAD3A:ATPase family AAA domain containing 3A [Gene - OMIM - HGNC]
  • ATAD3B:ATPase family AAA domain containing 3B [Gene - OMIM - HGNC]
  • ATAD3C:ATPase family AAA domain containing 3C [Gene - OMIM - HGNC]
  • GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
  • MIB2:MIB E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • NADK:NAD kinase [Gene - OMIM - HGNC]
  • SSU72:SSU72 homolog, RNA polymerase II CTD phosphatase [Gene - OMIM - HGNC]
  • ANKRD65:ankyrin repeat domain 65 [Gene - HGNC]
  • AURKAIP1:aurora kinase A interacting protein 1 [Gene - OMIM - HGNC]
  • CALML6:calmodulin like 6 [Gene - OMIM - HGNC]
  • CFAP74:cilia and flagella associated protein 74 [Gene - HGNC]
  • CCNL2:cyclin L2 [Gene - OMIM - HGNC]
  • CDK11A:cyclin dependent kinase 11A [Gene - OMIM - HGNC]
  • CDK11B:cyclin dependent kinase 11B [Gene - OMIM - HGNC]
  • FNDC10:fibronectin type III domain containing 10 [Gene - HGNC]
  • GABRD:gamma-aminobutyric acid type A receptor subunit delta [Gene - OMIM - HGNC]
  • MMP23B:matrix metallopeptidase 23B [Gene - OMIM - HGNC]
  • MRPL20:mitochondrial ribosomal protein L20 [Gene - OMIM - HGNC]
  • PRKCZ:protein kinase C zeta [Gene - OMIM - HGNC]
  • SLC35E2A:solute carrier family 35 member E2A [Gene - HGNC]
  • SLC35E2B:solute carrier family 35 member E2B [Gene - OMIM - HGNC]
  • TMEM240:transmembrane protein 240 [Gene - OMIM - HGNC]
  • TMEM52:transmembrane protein 52 [Gene - HGNC]
  • TMEM88B:transmembrane protein 88B [Gene - HGNC]
  • VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p36.33
Genomic location:
Chr1: 1309373 - 2043694 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4
HGVS:

    Condition(s)

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

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000298289GeneDx
    criteria provided, single submitter

    (GeneDx Variant Classification (06012015))    		Likely pathogenic
    (Jan 20, 2016)     		unknownclinical testing

    Citation Link

    Help

    Summary from all submissions

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

    Details of each submission

    From GeneDx, SCV000298289.1

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

    Last Updated: Apr 23, 2022