> Home
> Search
> Mailing List
> Info on HAE
> Login
Detailed info
Owner:
admin
Position:
exon 4
HAEUID:
82
Nucleotide change
Protein change
Traditional:
4453T>A
Traditional:
Val196Asp
HUGO:
g.5635T>A
HUGO:
p.Val218Asp
CDS:
c.653T>A
Effect:
pathogenic
Reference:
Zuraw BL et al (J Allergy Clin Immunol. 2000 Mar;105(3):541-6.)
Family history:
unknown
No. of cases:
0
Notes:
ND
Add note
(registered labs only)