Detailed info
Owner: |
tosi-lab |
Position: |
intron 2 |
HAEUID: |
47 |
Nucleotide change |
Protein change |
Traditional: |
2194delA |
Traditional: |
splicing defect |
HUGO: |
g.3376delA |
HUGO: |
p.- |
CDS: |
c.52-2delA |
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. |
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