46,Y,inv(X)(p21.1q13.3) AND Elevated serum creatine phosphokinase

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000856573.1

Allele description [Variation Report for 46,Y,inv(X)(p21.1q13.3)]

46,Y,inv(X)(p21.1q13.3)

Genes:
Variant type:
Inversion
Cytogenetic location:
Xp21.1-q13.3
Genomic location:
ChrX: 32196272 - 75245806 (on Assembly GRCh37)
Preferred name:
46,Y,inv(X)(p21.1q13.3)
HGVS:

    Condition(s)

    Name:
    Elevated serum creatine phosphokinase
    Synonyms:
    HYPERCKEMIA, IDIOPATHIC; Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0007402; MedGen: C0241005; OMIM: 123320; Human Phenotype Ontology: HP:0003236

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000999006Institute of Human Genetics,University of Wuerzburgno assertion criteria providedLikely pathogenicunknownclinical testing

    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 Wuerzburg, SCV000999006.1

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

    Last Updated: Jun 14, 2021

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