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Detailed info
Owner:
admin
Position:
exon 4
HAEUID:
80
Nucleotide change
Protein change
Traditional:
4414G>A
Traditional:
Cys183Tyr
HUGO:
g.5596G>A
HUGO:
p.Cys205Tyr
CDS:
c.614G>A
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
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(registered labs only)