Detailed info
Owner: |
trascasa-lab |
Position: |
exon 8 |
HAEUID: |
204 |
Nucleotide change |
Protein change |
Traditional: |
16777T>G |
Traditional: |
Ile440Ser |
HUGO: |
g.17959T>G |
HUGO: |
p.Ile462Ser |
CDS: |
c.1385T>G |
Effect: |
pathogenic |
Reference: |
J Allergy Clin Immunol 2006, 118: 1330-1335 |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
This mutation is detected in homozygosis in two relatives (Phenotype HAE type I). One is without symptoms.
There are 6 heterozygous relatives without clinical symptoms and with a phenotype type II |
Add note (registered labs only)
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