1. Analytes
  2. OBSCN

OBSCN

Analyte Export to PDF
Name:
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Symbol:
OBSCN
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
ARHGEF30
KIAA1556
KIAA1639
UNC89
XREF(s):
Orphanet
SwissProt
Reactome
HGNC
OMIM
Ensembl
Genatlas
Created:
26 Oct 2023 - 23:41
Changed:
26 Oct 2023 - 23:49
  • Dilated Cardiomyopathy (79 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 1 NM_020297.3
    ACTC1 100.00 1 NM_005159.5
    ACTN2 100.00 1 NM_001103.3
    ANK2 100.00 1 NM_001148.6
    ANKRD1 100.00 1 NM_014391.2
    BAG3 100.00 1 NM_004281.4
    CASQ2 100.00 1 NM_001232.3
    CAV3 100.00 1 NM_033337.3
    CDH2 100.00 1 NM_001792.5
    CRYAB 100.00 1 NM_001289808.2
    CSRP3 100.00 1 NM_003476.5
    CTF1 100.00 1 NM_001330.3
    DES 100.00 1 NM_001927.4
    DMD 100.00 1 NM_004006.2
    DOLK 100.00 1 NM_014908.4
    DSC2 100.00 1 NM_024422.6
    DSG2 100.00 1 NM_001943.5
    DSP 100.00 1 NM_004415.4
    DTNA 100.00 1 NM_001198938.2
    EMD 100.00 1 NM_000117.3
    EYA4 100.00 1 NM_004100.5
    FHL1 100.00 1 NM_001159699.2
    FHL2 100.00 1 NM_201555.2
    FHOD3 100.00 1 NM_001281740.3
    FKRP 100.00 1 NM_024301.5
    FKTN 100.00 1 NM_006731.2
    FLII 100.00 1 NM_002018.4
    FLNC 100.00 1 NM_001458.4
    GATA6 100.00 1 NM_005257.5
    GATAD1 100.00 1 NM_021167.5
    GLA 100.00 1 NM_000169.3
    ILK 100.00 1 NM_004517.4
    JPH2 100.00 1 NM_020433.5
    JUP 100.00 1 NM_002230.4
    LAMA4 100.00 1 NM_001105206.3
    LAMP2 100.00 1 NM_002294.3
    LDB3 100.00 1 NM_001171610.2
    LMNA 100.00 1 NM_170707.4
    MIB1 100.00 1 NM_020774.3
    MYBPC3 100.00 1 NM_000256.3
    MYH6 100.00 1 NM_002471.3
    MYH7 100.00 1 NM_000257.4
    MYL2 100.00 1 NM_000432.4
    MYL3 100.00 1 NM_000258.3
    MYLK2 100.00 1 NM_033118.4
    MYLK3 100.00 1 NM_182493.3
    MYOZ2 100.00 1 NM_016599.5
    MYPN 100.00 1 NM_032578.3
    NEBL 100.00 1 NM_006393.2
    NEXN 100.00 1 NM_144573.3
    NKX2-5 100.00 1 NM_004387.4
    NRAP 100.00 1 NM_198060.4
    OBSCN 100.00 1 NM_001271223.2
    PKP2 100.00 1 NM_001005242.3
    PLEKHM2 100.00 1 NM_015164.4
    PLN 100.00 1 NM_002667.5
    PRDM16 100.00 1 NM_022114.4
    PRKAG2 100.00 1 NM_016203.4
    PSEN2 100.00 1 NM_000447.3
    RAF1 100.00 1 NM_001354689.3
    RBM20 100.00 1 NM_001134363.3
    RPL3L 100.00 1 NM_005061.3
    RYR2 100.00 1 NM_001035.3
    SCN5A 100.00 1 NM_000335.5
    SGCD 100.00 1 XM_017009724.1
    SPEG 100.00 1 NM_005876.5
    TBX20 100.00 1 NM_001077653.2
    TBX5 100.00 1 NM_181486.4
    TCAP 100.00 1 NM_003673.4
    TMEM43 100.00 1 NM_024334.3
    TNNC1 100.00 1 NM_003280.3
    TNNI3 100.00 1 NM_000363.5
    TNNI3K 100.00 1 NM_015978.3
    TNNT2 100.00 1 NM_001276345.2
    TPM1 100.00 1 NM_001018005.2
    TTN 99.52 1 NM_001267550.2
    TTR 100.00 1 NM_000371.4
    VCL 100.00 1 NM_014000.3
    TAFAZZIN 100.00 1 NM_000116.5