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GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000846292.2

Allele description [Variation Report for GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3]

GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3

Genes:
  • POLR2G:RNA polymerase II subunit G [Gene - OMIM - HGNC]
  • TAF6L:TATA-box binding protein associated factor 6 like [Gene - OMIM - HGNC]
  • WDR74:WD repeat domain 74 [Gene - OMIM - HGNC]
  • CHRM1:cholinergic receptor muscarinic 1 [Gene - OMIM - HGNC]
  • HNRNPUL2:heterogeneous nuclear ribonucleoprotein U like 2 [Gene - HGNC]
  • NXF1:nuclear RNA export factor 1 [Gene - OMIM - HGNC]
  • SNHG1:small nucleolar RNA host gene 1 [Gene - OMIM - HGNC]
  • SNORD22:small nucleolar RNA, C/D box 22 [Gene - OMIM - HGNC]
  • SNORD25:small nucleolar RNA, C/D box 25 [Gene - OMIM - HGNC]
  • SNORD26:small nucleolar RNA, C/D box 26 [Gene - OMIM - HGNC]
  • SNORD27:small nucleolar RNA, C/D box 27 [Gene - OMIM - HGNC]
  • SNORD28:small nucleolar RNA, C/D box 28 [Gene - OMIM - HGNC]
  • SNORD29:small nucleolar RNA, C/D box 29 [Gene - OMIM - HGNC]
  • SNORD30:small nucleolar RNA, C/D box 30 [Gene - OMIM - HGNC]
  • SNORD31:small nucleolar RNA, C/D box 31 [Gene - OMIM - HGNC]
  • SLC22A6:solute carrier family 22 member 6 [Gene - OMIM - HGNC]
  • SLC22A8:solute carrier family 22 member 8 [Gene - OMIM - HGNC]
  • SLC3A2:solute carrier family 3 member 2 [Gene - OMIM - HGNC]
  • STX5:syntaxin 5 [Gene - OMIM - HGNC]
  • TTC9C:tetratricopeptide repeat domain 9C [Gene - HGNC]
  • TMEM179B:transmembrane protein 179B [Gene - HGNC]
  • TMEM223:transmembrane protein 223 [Gene - HGNC]
  • ZBTB3:zinc finger and BTB domain containing 3 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11q12.3
Genomic location:
Chr11: 62487052 - 62788240 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000988413Bionano Laboratories
    no assertion criteria provided
    Uncertain significance
    (Nov 21, 2017)
    unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000988413.1

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

    Last Updated: Dec 11, 2022