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DNAJC30

Analyte Export to PDF
Name:
DnaJ heat shock protein family (Hsp40) member C30
Symbol:
DNAJC30
Version of Orphanet:
2023-06-22 14:14:43
XREF(s):
Orphanet
OMIM
HGNC
Ensembl
SwissProt
Created:
20 Aug 2021 - 01:08
Changed:
22 Jun 2023 - 16:14
  • Optic atrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACO2 99.99 1
    AFG3L2 99.97 1
    ATAD3A 99.62 1
    AUH 99.95 1
    C19ORF12 99.99 1
    CISD2 96.27 1
    DNAJC19 99.76 1
    DNAJC30 100.00 1
    DNM1L 99.40 1
    FDXR 99.99 1
    MCAT 99.99 1
    MECR 99.63 1
    MFF 99.97 1
    MFN2 99.98 1
    MTPAP 99.97 1
    MTRFR 99.87 1
    NBAS 99.86 1
    NDUFS1 99.79 1
    NDUFS2 99.66 1
    NR2F1 99.99 1
    MED12 99.95 1
    OPA3 100.00 1
    POLG 100.00 1
    RTN4IP1 99.98 1
    SLC25A46 99.88 1
    SLC44A1 99.90 1
    SLC52A2 100.00 1
    SPG7 99.99 1
    SSBP1 100.00 1
    TIMM8A 100.00 1
    TMEM126A 99.88 1
    TSFM 100.00 1
    WFS1 99.99 1
    YME1L1 99.87 1
    ZNHIT3 62.89 1