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 : 5

*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 11
c.1459del
p.(His487Thrfs*7)
H487Tfs*7
PathogenicTo be validated
 2021-09-20
exon 11
c.1391_1392del
p.(Thr464Argfs*26)
T464Rfs*26
Likely pathogenicTo be validated
 2021-09-20
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
exon 11
c.1227del
p.(Val410Serfs*4)
V410Sfs*4
Likely pathogenicTo be validated
 2021-09-20