> Home
> Search
> Mailing List
> Info on HAE
> Login
Detailed info
Owner:
admin
Position:
exon 6
HAEUID:
92
Nucleotide change
Protein change
Traditional:
8779_8784del6bp
Traditional:
LysAsn294_295del
HUGO:
g.9961_9966del
HUGO:
p.LysAsn316_317del
CDS:
c.946_951del
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)