Detailed info
Owner: |
admin |
Position: |
exon 3 |
HAEUID: |
71 |
Nucleotide change |
Protein change |
Traditional: |
2467_2468insA |
Traditional: |
Frameshift |
HUGO: |
g.3649_3650insA |
HUGO: |
p.Gln108fs |
CDS: |
c.323_324insA |
Effect: |
pathogenic |
Reference: |
Bowen B et al (Clin Immunol. 2001 Feb;98(2):157-63.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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