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Detailed info
Owner:
admin
Position:
exon 4
HAEUID:
81
Nucleotide change
Protein change
Traditional:
4460_4461insA
Traditional:
Frameshift
HUGO:
g.5642_5643insA
HUGO:
p.Ser220fs
CDS:
c.660_661insA
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)