Detailed info
Owner: |
admin |
Position: |
intron 5 |
HAEUID: |
88 |
Nucleotide change |
Protein change |
Traditional: |
8721A>G |
Traditional: |
Splicing defect |
HUGO: |
g.9903A>G |
HUGO: |
p.- |
CDS: |
c.890-2A>G |
Effect: |
pathogenic |
Reference: |
Bowen B et al (Clin Immunol. 2001 Feb;98(2):157-63.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
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