> Home
> Search
> Mailing List
> Info on HAE
> Login
Detailed info
Owner:
admin
Position:
exon 4
HAEUID:
79
Nucleotide change
Protein change
Traditional:
4371A>G
Traditional:
Thr169Pro
HUGO:
g.5553A>G
HUGO:
p.Thr191Pro
CDS:
c.571A>G
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)