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Detailed info
Owner:
admin
Position:
exon 4
HAEUID:
76
Nucleotide change
Protein change
Traditional:
4371delA
Traditional:
Frameshift
HUGO:
g.5553del
HUGO:
p.Lys190fs
CDS:
c.571del
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)