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Detailed info
Owner:
admin
Position:
exon 5
HAEUID:
87
Nucleotide change
Protein change
Traditional:
8459A>G
Traditional:
Ile252Val
HUGO:
g.9641A>G
HUGO:
p.Ile274Val
CDS:
c.820A>G
Effect:
pathogenic
Reference:
Zuraw BL et al (J Allergy Clin Immunol. 2000 Mar;105(3):541-6.)
Family history:
unknown
No. of cases:
0
Notes:
ND
Add note
(registered labs only)