Detailed info
Owner: |
tosi-lab |
Position: |
exon 3 |
HAEUID: |
53 |
Nucleotide change |
Protein change |
Traditional: |
2490C>T |
Traditional: |
Gln94Stop |
HUGO: |
g.3672C>T |
HUGO: |
p.Gln116Stop |
CDS: |
c.34C>T |
Effect: |
pathogenic |
Reference: |
Pappalardo et al., J Allergy Clin Immunol 2000;106:1147-54 |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
Method: FAMA followed by sequencing. De novo. |
Add note (registered labs only)
|