U.S. flag

An official website of the United States government

GRCh37/hg19 20p12.2(chr20:9736492-9886643)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 8, 2017
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV000849659.2

Allele description [Variation Report for GRCh37/hg19 20p12.2(chr20:9736492-9886643)x3]

GRCh37/hg19 20p12.2(chr20:9736492-9886643)x3

Gene:
PAK5:p21 (RAC1) activated kinase 5 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
20p12.2
Genomic location:
Chr20: 9736492 - 9886643 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 20p12.2(chr20:9736492-9886643)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000991801Bionano Laboratories
    no assertion criteria provided
    Uncertain significance
    (Sep 8, 2017)
    unknownclinical testing

    Last Updated: Dec 11, 2022

    External link. Please review our privacy policy.