> Home
> Search
> Mailing List
> Info on HAE
> Login
Detailed info
Owner:
Rijavec-Golnik
Position:
exon 3
HAEUID:
317
Nucleotide change
Protein change
Traditional:
2445C>T
Traditional:
Gln79Stop
HUGO:
g.3627 C>T
HUGO:
p.Gln101Stop
CDS:
c.301C>T
Effect:
pathogenic
Reference:
Andrejević et al. (PLoS One. 2015;10(11):e0142174)
Family history:
positive
No. of cases:
0
Notes:
ND
Add note
(registered labs only)