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

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
T470S
exon 11
c.1409C>G
p.(Thr470Ser)Likely pathogenicTo be validated
 2019-05-13
V295L
exon 7
c.883G>C
p.(Val295Leu)Uncertain significance (VOUS)To be validated
 2019-05-13
C305F
exon 7
c.914G>T
p.(Cys305Phe)Uncertain significance (VOUS)To be validated
 2019-05-13
A319V
exon 8
c.956C>T
p.(Ala319Val)Uncertain significance (VOUS)To be validated
 2019-05-13
c.727G>T
exon 6
c.727G>T
p.(Glu243*)Likely pathogenicTo be validated
 2019-01-22
c.1160A>G
exon 9
c.1160A>G
p.(Asn387Ser)Likely pathogenicTo be validated
 2019-01-22
c.896_899del
exon 7
c.896_899del
p.(Glu299Valfs*46)Likely pathogenicTo be validated
 2019-01-22
c.722del
exon 6
c.722del
p.(Ala241Glyfs*35)Likely pathogenicTo be validated
 2019-01-22
c.52G>C
exon 2
c.52G>C
p.(Ala18Pro)Likely pathogenicTo be validated
 2019-01-22
c.727_728insGGCG
exon 6
c.724_727dup
p.(Glu243Glyfs*58)Likely pathogenicTo be validated
 2019-01-22
c.1054C>T
exon 9
c.1054C>T
p.(Arg352*)Likely pathogenicTo be validated
 2019-01-22
c.494delG
exon 5
c.497del
p.(Gly166Alafs*110)Likely pathogenicTo be validated
 2019-01-22
c.917+3_917+4insG
intron 7
c.917+3_917+4insG
p.?Likely pathogenicTo be validated
 2019-01-22
c.ex1_ex4del
exon 1
c.(?_1-89)_(460+1_461-1)del
p.?Likely pathogenicTo be validated
 2019-01-22
Q222X
exon 7
c.790C>T
p.(Gln264*)Likely pathogenicTo be validated
 2019-01-22
P190fs
exon 6
c.697_703dup
p.(Glu235Glyfs*67)Likely pathogenicTo be validated
 2019-01-22
c.456+1G>C
exon 4
c.456+1G>C
p.?Likely pathogenicTo be validated
 2019-01-22
L41fsX7
exon 2
c.121_122del
p.(Leu41Glufs*7)Not classifiedTo be validated
 2013-04-15
Q185X
exon 5
c.553C>T
p.(Gln185*)Not classifiedTo be validated
 2013-04-15