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GRCh37/hg19 6q21(chr6:110720327-111091182)x3 AND Seizure

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 2022
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:
RCV002284260.1

Allele description [Variation Report for GRCh37/hg19 6q21(chr6:110720327-111091182)x3]

GRCh37/hg19 6q21(chr6:110720327-111091182)x3

Genes:
DDO:D-aspartate oxidase [Gene - OMIM - HGNC]
CDK19:cyclin dependent kinase 19 [Gene - OMIM - HGNC]
SLC22A16:solute carrier family 22 member 16 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
6q21
Genomic location:
Chr6: 110713707 - 111100242 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6q21(chr6:110720327-111091182)x3
HGVS:

    Condition(s)

    Name:
    Seizure
    Synonyms:
    Seizures
    Identifiers:
    MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002573644Institute of Human Genetics, University of Goettingen
    no assertion criteria provided
    		Uncertain significance
    (Jun 19, 2022)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Institute of Human Genetics, University of Goettingen, SCV002573644.1

    #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: Sep 24, 2022