U.S. flag

An official website of the United States government

  • delete

GRCh37/hg19 19p13.3(chr19:572671-663929)x3 AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 15, 2013
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:
RCV000739939.2

Allele description

GRCh37/hg19 19p13.3(chr19:572671-663929)x3

Genes:
POLRMT:RNA polymerase mitochondrial [Gene - OMIM - HGNC]
BSG:basigin (Ok blood group) [Gene - OMIM - HGNC]
FGF22:fibroblast growth factor 22 [Gene - OMIM - HGNC]
HCN2:hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 [Gene - OMIM - HGNC]
RNF126:ring finger protein 126 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19p13.3
Genomic location:
Chr19: 572671 - 663929 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19p13.3(chr19:572671-663929)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000868275Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
    no assertion criteria provided
    		Benign
    (Feb 15, 2013)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000868275.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing
    (GTR000295241.2)    		not provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedtissuenot provided
    (GTR000295241.2)    		not providednot providednot providednot provided

    Last Updated: Mar 4, 2023