Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
119 |
Nucleotide change |
Protein change |
Traditional: |
16867T>A |
Traditional: |
Met470Lys |
HUGO: |
g.18049T>A |
HUGO: |
p.Met492Lys |
CDS: |
c.1475T>A |
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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