> Home
> Search
> Mailing List
> Info on HAE
> Login
Detailed info
Owner:
Wuerzburg
Position:
exon 3
HAEUID:
251
Nucleotide change
Protein change
Traditional:
2527_2528delCT
Traditional:
Frameshift
HUGO:
g.
HUGO:
p.
CDS:
c.383_384delCT
Effect:
pathogenic
Reference:
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
Family history:
sporadic (negative)
No. of cases:
0
Notes:
ND
Add note
(registered labs only)