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 : 20

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

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

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 1
c.(?_1-89)_(460+1_461-1)del
p.?
c.ex1_ex4del
Likely pathogenicTo be validated
 2019-01-22
exon 2
c.52G>C
p.(Ala18Pro)
c.52G>C
Likely pathogenicTo be validated
 2019-01-22
exon 2
c.121_122del
p.(Leu41Glufs*7)
L41fsX7
Not classifiedTo be validated
 2013-04-15
exon 4
c.364A>C
p.(Asn122His)
N122H
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 4
c.456+1G>C
p.?
c.456+1G>C
Likely pathogenicTo be validated
 2019-01-22
exon 5
c.497del
p.(Gly166Alafs*110)
c.494delG
Likely pathogenicTo be validated
 2019-01-22
exon 5
c.553C>T
p.(Gln185*)
Q185X
Not classifiedTo be validated
 2013-04-15
exon 6
c.697_703dup
p.(Glu235Glyfs*67)
P190fs
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.722del
p.(Ala241Glyfs*35)
c.722del
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.724_727dup
p.(Glu243Glyfs*58)
c.727_728insGGCG
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.727G>T
p.(Glu243*)
c.727G>T
Likely pathogenicTo be validated
 2019-01-22
exon 7
c.790C>T
p.(Gln264*)
Q222X
Likely pathogenicTo be validated
 2019-01-22
exon 7
c.883G>C
p.(Val295Leu)
V295L
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 7
c.896_899del
p.(Glu299Valfs*46)
c.896_899del
Likely pathogenicTo be validated
 2019-01-22
exon 7
c.914G>T
p.(Cys305Phe)
C305F
Uncertain significance (VOUS)To be validated
 2019-05-13
intron 7
c.917+3dup
p.?
c.917+3_917+4insG
Likely pathogenicTo be validated
 2019-01-22
exon 8
c.956C>T
p.(Ala319Val)
A319V
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 9
c.1054C>T
p.(Arg352*)
c.1054C>T
Likely pathogenicTo be validated
 2019-01-22
exon 9
c.1160A>G
p.(Asn387Ser)
c.1160A>G
Likely pathogenicTo be validated
 2019-01-22
exon 11
c.1409C>G
p.(Thr470Ser)
T470S
Likely pathogenicTo be validated
 2019-05-13