1. Analytes
  2. HBB

HBB

Analyte Export to PDF
Name:
hemoglobin subunit beta
Symbol:
HBB
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
CD113t-C
beta-globin
XREF(s):
Orphanet
HGNC
OMIM
Reactome
SwissProt
Ensembl
Genatlas
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Hereditary Hemolytic Anemias (52 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    GYPA 93.49 0 hemolytic anemia
    HBG1 94.93 0 hemolytic anemia
    ADAMTS13 95.39 0 hemolytic anemia
    MYB 96.76 0 hemolytic anemia
    PFKFB1 97.48 0 hemolytic anemia
    PIEZO1 97.92 0 hemolytic anemia
    ADA 97.95 0 hemolytic anemia
    PIGA 98.95 0 hemolytic anemia
    CFHR1 99.06 0 hemolytic anemia
    GYPC 99.28 0 hemolytic anemia
    G6PD 99.40 0 hemolytic anemia
    CFHR3 99.87 0 hemolytic anemia
    PGK1 99.88 0 hemolytic anemia
    THBD 99.88 0 hemolytic anemia
    SPTB 99.90 0 hemolytic anemia
    TPI1 99.90 0 hemolytic anemia
    CDAN1 99.91 0 hemolytic anemia
    SEC23B 99.97 0 hemolytic anemia
    SPTA1 99.98 0 hemolytic anemia
    GPI 99.99 0 hemolytic anemia
    AK1 100.00 0 hemolytic anemia
    ALDOA 100.00 0 hemolytic anemia
    ANK1 100.00 0 hemolytic anemia
    BCL11A 100.00 0 hemolytic anemia
    BPGM 100.00 0 hemolytic anemia
    C3 100.00 0 hemolytic anemia
    CD46 100.00 0 hemolytic anemia
    CFB 100.00 0 hemolytic anemia
    CFH 100.00 0 hemolytic anemia
    CFHR4 100.00 0 hemolytic anemia
    CFI 100.00 0 hemolytic anemia
    DGKE 100.00 0 hemolytic anemia
    EPB41 100.00 0 hemolytic anemia
    EPB42 100.00 0 hemolytic anemia
    GATA1 100.00 0 hemolytic anemia
    GSS 100.00 0 hemolytic anemia
    HBB 100.00 0 hemolytic anemia
    HBG2 100.00 0 hemolytic anemia
    HK1 100.00 0 hemolytic anemia
    KLF1 100.00 0 hemolytic anemia
    NT5C3A 100.00 0 hemolytic anemia
    PIGT 100.00 0 hemolytic anemia
    PKLR 100.00 0 hemolytic anemia
    SLC4A1 100.00 0 hemolytic anemia
    STOM 100.00 0 hemolytic anemia
    UGT1A1 100.00 0 hemolytic anemia
  • Stroke - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA1 99.92 1
    ABCC6 98.57 1
    ACAD9 100.00 1
    ACP5 100.00 1
    ACTA2 99.99 1
    ACVRL1 99.88 1
    ADA2 100.00 1
    APP 99.92 1
    ASS1 77.52 1
    ATP7A 99.87 1
    C1R 99.99 1
    CACNA1A 98.16 1
    CBS 17.79 1
    CCM2 99.93 1
    CD59 100.00 1
    COG6 99.86 1
    COL1A1 99.90 1
    COL3A1 99.87 1
    COL4A1 99.99 1
    COL4A2 99.98 1
    COL5A1 99.99 1
    COL5A2 99.86 1
    COQ8A 100.00 1
    CYP21A2 99.91 1
    CST3 100.00 1
    CTSA 99.98 1
    DYRK1B 99.99 1
    EFEMP2 99.94 1
    ENG 100.00 1
    ENPP1 99.88 1
    ESCO2 99.92 1
    F10 99.98 1
    F13A1 99.43 1
    F2 99.99 1
    F5 99.59 1
    F7 100.00 1
    F8A1 21.76 1
    FBN1 99.85 1
    FGA 99.98 1
    FGB 99.93 1
    FGG 99.98 1
    FOXC1 100.00 1
    GAA 100.00 1
    GATA3 99.96 1
    GCDH 100.00 1
    GGCX 99.88 1
    GLA 99.90 1
    GUCY1A1 99.99 1
    HBB 100.00 1
    HSD11B2 99.99 1
    HTRA1 100.00 1
    ITM2B 99.85 1
    IVD 100.00 1
    JAG1 100.00 1
    JAK2 99.52 1
    JAM3 100.00 1
    KNG1 99.99 1
    KRIT1 99.33 1
    LMNA 99.96 1
    MFAP5 99.96 1
    MFN2 99.98 1
    MMACHC 99.98 1
    MMUT 99.68 1
    MTHFR 99.97 1
    MYH11 99.16 1
    NF1 99.88 1
    NOTCH3 99.99 1
    OTC 99.42 1
    PCCA 99.90 1
    PCCB 99.97 1
    PCNT 99.97 1
    PDCD10 99.94 1
    PDE3A 99.97 1
    PKD1 99.98 1
    PLG 99.89 1
    PLOD1 99.93 1
    PLOD3 99.89 1
    PROC 99.98 1
    PROS1 99.84 1
    PTPN11 99.98 1
    RASA1 99.05 1
    SAMHD1 99.98 1
    SERPINE1 99.90 1
    SLC19A2 98.86 1
    SLC2A10 100.00 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMARCAL1 99.97 1
    SPARC 99.94 1
    STAT1 99.83 1
    STIM1 99.99 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    THBD 100.00 1
    TREX1 100.00 1
    TSC1 99.99 1
    TSC2 99.98 1
    TTR 100.00 1
    VHL 100.00 1
    YY1AP1 99.98 1