RELA (NM_021975.4) sequence variants
(p65, CMCU, NFKB3)

Editor(s): Sinisa SAVIC   

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Total current number of sequence variants for RELA : 13

*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 6
c.559+1G>A
p.Thr164Profs*12
c.559+1G>A
PathogenicTo be validated
 2021-09-20 
exon 8
c.736C>T
p.(Arg246*)
R246*
Likely pathogenicTo be validated
 2021-09-20 
intron 9
c.959-1G>A
p.?
c.959-1G>A
Likely pathogenicTo be validated
 2023-02-07 
exon 10
c.985C>T
p.(Arg329*)
R329*
PathogenicTo be validated
 2023-03-02 
intron 10
c.1034-1G>A
p.?
c.1034-1G>A
Likely pathogenicTo be validated
 2024-03-06 
exon 11
c.1047T>A
p.(Tyr349*)
p.Y349*
PathogenicTo be validated
 2024-03-06 
exon 11
c.1153C>T
p.(Gln385*)
Q385*
PathogenicTo be validated
 2023-03-02 
exon 11
c.1165C>T
p.(Gln389*)
Q389*
Likely pathogenicTo be validated
 2023-04-24 
exon 11
c.1227del
p.(Val410Serfs*4)
V410Sfs*4
Likely pathogenicTo be validated
 2021-09-20 
exon 11
c.1311dup
p.(Glu438Argfs*9)
E438Rfs*9
Likely pathogenicTo be validated
 2023-03-022023-03-02
exon 11
c.1391_1392del
p.(Thr464Argfs*26)
T464Rfs*26
Likely pathogenicTo be validated
 2021-09-202021-10-07
exon 11
c.1416dup
p.(Glu473Argfs*18)
p.E473Rfs*18
PathogenicTo be validated
 2024-03-06 
exon 11
c.1459del
p.(His487Thrfs*7)
H487Tfs*7
PathogenicTo be validated
 2021-09-202021-10-06