CEBPE (NM_001805.4) sequence variants
(CRP1)

Editor(s): Guilaine BOURSIER   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele

🔎

Total current number of sequence variants for CEBPE : 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 2
c.656G>A
p.(Arg219His)
R219H
PathogenicTo be validated
 2021-02-12
exon 2
c.653T>C
p.(Val218Ala)
V218A
Likely pathogenicTo be validated
 2021-02-12
exon 2
c.508_509dup
p.Ala171Argfs*15
c.508_509insA
PathogenicTo be validated
 2021-02-12
exon 2
c.742_747del
p.(Ser248_Arg249del)
c.739_744delCGCAGC
PathogenicTo be validated
 2021-02-12
exon 2
c.249_253del
p.Asp84Serfs*119
delTGACC
PathogenicTo be validated
 2021-02-12