RBCK1 (NM_031229.2) sequence variants
(heme-oxidized IRP2 ubiquitin ligase 1, HOIL1, RBCK2, RNF54, UBCE7IP3, XAP4, ZRANB4)

Editor(s): Guilaine BOURSIER   

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Total current number of sequence variants for RBCK1 : 19

* If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 11c.1409C>Gp.(Thr470Ser)Likely pathogenicTo be validated
 2019-05-13
exon 7c.883G>Cp.(Val295Leu)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 7c.914G>Tp.(Cys305Phe)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 8c.956C>Tp.(Ala319Val)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 6c.727G>Tp.(Glu243*)Likely pathogenicTo be validated
 2019-01-22
exon 9c.1160A>Gp.(Asn387Ser)Likely pathogenicTo be validated
 2019-01-22
exon 7c.896_899delp.(Glu299Valfs*46)Likely pathogenicTo be validated
 2019-01-22
exon 6c.722delp.(Ala241Glyfs*35)Likely pathogenicTo be validated
 2019-01-22
exon 2c.52G>Cp.(Ala18Pro)Likely pathogenicTo be validated
 2019-01-22
exon 6c.724_727dupp.(Glu243Glyfs*58)Likely pathogenicTo be validated
 2019-01-22
exon 9c.1054C>Tp.(Arg352*)Likely pathogenicTo be validated
 2019-01-22
exon 5c.497delp.(Gly166Alafs*110)Likely pathogenicTo be validated
 2019-01-22
intron 7c.917+3_917+4insGp.?Likely pathogenicTo be validated
 2019-01-22
exon 1c.(?_1-89)_(460+1_461-1)delp.?Likely pathogenicTo be validated
 2019-01-22
exon 7c.790C>Tp.(Gln264*)Likely pathogenicTo be validated
 2019-01-22
exon 6c.697_703dupp.(Glu235Glyfs*67)Likely pathogenicTo be validated
 2019-01-22
exon 4c.456+1G>Cp.?Likely pathogenicTo be validated
 2019-01-22
exon 2c.121_122delp.(Leu41Glufs*7)Not classifiedTo be validated
 2013-04-15
exon 5c.553C>Tp.(Gln185*)Not classifiedTo be validated
 2013-04-15