IKBKG (NM_003639.4) sequence variants
(IKK-gamma, NEMO, Fip3p, FIP-3, FIP3, ZC2HC9)

Editor(s): Adriana ALMEIDA DE JESUS   

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Total current number of sequence variants for IKBKG : 8

*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
intron 4
c.519-23A>C
p.Ala174_Lys224del
c.519-23A>C
PathogenicTo be validated
 2022-02-11 
intron 4
c.519-11C>G
p.Ala174_Lys224del
c.519-11C>G
PathogenicTo be validated
 2022-03-172022-07-07
intron 4
c.519-2A>G
p.Ala174_Lys224del
c.519-2A>G
Likely pathogenicTo be validated
 2020-02-172022-03-20
exon 5
c.597G>A
p.(Val199=)
V199V
Likely pathogenicTo be validated
 2020-02-172022-03-17
intron 5
c.671+1G>C
p.Ala174_Lys224del
c.671+1G>C
PathogenicTo be validated
 2022-02-112022-03-20
intron 5
c.671+2T>G
p.Ala174_Lys224del
c.671+2T>G
Likely pathogenicTo be validated
 2020-02-172022-03-20
intron 5
c.671+3G>C
p.Ala174_Lys224del
c.671+3G>C
PathogenicTo be validated
 2022-05-23 
intron 5
c.671+5G>A
p.Ala174_Lys224del
c.671+5G>A
Likely pathogenicTo be validated
 2020-02-172022-03-20