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GRCh37/hg19 7q32.1(chr7:127999644-128465294)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 22, 2018
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:
RCV000846728.2

Allele description [Variation Report for GRCh37/hg19 7q32.1(chr7:127999644-128465294)x3]

GRCh37/hg19 7q32.1(chr7:127999644-128465294)x3

Genes:
  • CALU:calumenin [Gene - OMIM - HGNC]
  • CCDC136:coiled-coil domain containing 136 [Gene - OMIM - HGNC]
  • GARIN1A:golgi associated RAB2 interactor 1A [Gene - OMIM - HGNC]
  • GARIN1B:golgi associated RAB2 interactor 1B [Gene - OMIM - HGNC]
  • HILPDA:hypoxia inducible lipid droplet associated [Gene - OMIM - HGNC]
  • IMPDH1:inosine monophosphate dehydrogenase 1 [Gene - OMIM - HGNC]
  • METTL2B:methyltransferase 2B, methylcytidine [Gene - OMIM - HGNC]
  • OPN1SW:opsin 1, short wave sensitive [Gene - OMIM - HGNC]
  • PRRT4:proline rich transmembrane protein 4 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q32.1
Genomic location:
Chr7: 127999644 - 128465294 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q32.1(chr7:127999644-128465294)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000988850Bionano Laboratories
    no assertion criteria provided
    		Uncertain significance
    (May 22, 2018)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000988850.1

    #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