Detailed info
Owner: |
drouet_lab |
Position: |
intron 2 |
HAEUID: |
206 |
Nucleotide change |
Protein change |
Traditional: |
640A>G |
Traditional: |
splicing defect |
HUGO: |
g.1822A>G |
HUGO: |
p. |
CDS: |
c.51+3A>G |
Effect: |
pathogenic |
Reference: |
Duponchel et al. (Human Mutat 2006 Mar;27(3):295-6) |
Family history: |
positive |
No. of cases: |
7 |
Notes: |
c.-21C polymorphism (exon 2) contributing to the severity of the disease |
Add note (registered labs only)
|