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Detailed info
Owner:
admin
Position:
exon 3
HAEUID:
72
Nucleotide change
Protein change
Traditional:
2589T>G
Traditional:
Phe127Val
HUGO:
g.3771T>G
HUGO:
p.Phe149Val
CDS:
c.445T>G
Effect:
pathogenic
Reference:
Bissler JJ et al (Proc Assoc Am Physicians. 1997 Mar;109(2):164-73.)
Family history:
unknown
No. of cases:
0
Notes:
ND
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(registered labs only)