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JPH2

Analyte Export to PDF
Name:
Junctophilin 2
Symbol:
JPH2
XREF(s):
OMIM
HGNC
Created:
27 Nov 2019 - 11:02
Changed:
27 Nov 2019 - 11:04
  • Cardiomyopathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0
    ACTC1 100.00 0
    ACTN2 100.00 0
    ANKRD1 100.00 0
    BAG3 100.00 0
    CAV3 100.00 0
    CRYAB 100.00 0
    CSRP3 100.00 0
    CTNNA3 100.00 0
    DES 100.00 0
    DSC2 100.00 0
    DSG2 100.00 0
    DSP 100.00 0
    EMD 100.00 0
    FHL1 100.00 0
    GLA 100.00 0
    JUP 100.00 0
    LAMA4 100.00 0
    LAMP2 100.00 0
    LDB3 100.00 0
    LMNA 100.00 0
    MIB1 100.00 0
    MYBPC3 100.00 0
    MYH6 98.00 0
    MYH7 100.00 0
    MYL2 100.00 0
    NEXN 100.00 0
    PKP2 100.00 0
    PLN 100.00 0
    PRDM16 100.00 0
    PRKAG2 100.00 0
    RBM20 100.00 0
    SCN5A 100.00 0
    SGCD 99.00 0
    TAFAZZIN 100.00 0
    TCAP 100.00 0
    TGFB3 100.00 0
    TMEM43 100.00 0
    TNNC1 100.00 0
    TNNI3 100.00 0
    TNNT2 100.00 0
    TPM1 100.00 0
    TTN 100.00 0
    TTR 100.00 0
    VCL 100.00 0
    RYR2 100.00 0
    FLNC 100.00 0
    FHL2 100.00 0
    NEBL 100.00 0
    RAF1 100.00 0
    SDHA 100.00 0
    SYNE1 100.00 0
    CALR3 100.00 0
    JPH2 100.00 0
    ALPK3 100.00 0
    MYL3 100.00 0
    MYOZ2 100.00 0
    MYPN 100.00 0
    PPA2 100.00 0
    CALR3 100.00 0
    CDH2 100.00 0
    DOLK 100.00 0
    JPH2 100.00 0
    MYL3 100.00 0
    MYLK3 100.00 0
    MYOZ2 100.00 0
    NRAP 100.00 0
    RPL3L 100.00 0
    TNNI3K 100.00 0
  • Hypertrophic cardiomyopathy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MYBPC3 100.00 1
    MYH7 100.00 1
    TNNT2 100.00 1
    ACTC1 100.00 1
    PRKAG2 100.00 1
    CSRP3 100.00 1
    JPH2 100.00 1
    MYL2 100.00 1
    MYL3 100.00 1
    TNNC1 100.00 1
    TNNI3 100.00 1
    TPM1 100.00 1