Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
107 |
Nucleotide change |
Protein change |
Traditional: |
16827T>C |
Traditional: |
Phe457Leu |
HUGO: |
g.18009T>C |
HUGO: |
p.Phe479Leu |
CDS: |
c.1435T>C |
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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