> Home
> Search
> Mailing List
> Info on HAE
> Login
Detailed info
Owner:
Wuerzburg
Position:
exon 7
HAEUID:
224
Nucleotide change
Protein change
Traditional:
14166T>C
Traditional:
Ser367Pro
HUGO:
g.
HUGO:
p.Ser389Pro
CDS:
c.1165T>C
Effect:
unknown
Reference:
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
Family history:
positive
No. of cases:
0
Notes:
2 members of 1 family
Add note
(registered labs only)