> Home
> Search
> Mailing List
> Info on HAE
> Login
Detailed info
Owner:
admin
Position:
exon 5
HAEUID:
83
Nucleotide change
Protein change
Traditional:
8377C>A
Traditional:
Ser224Arg
HUGO:
g.9559C>A
HUGO:
p.Ser246Arg
CDS:
c.738C>A
Effect:
pathogenic
Reference:
Bissler JJ et al (Proc Assoc Am Physicians. 1997 Mar;109(2):164-73.)
Family history:
unknown
No. of cases:
0
Notes:
ND
Add note
(registered labs only)