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Detailed info
Owner:
admin
Position:
exon 3
HAEUID:
74
Nucleotide change
Protein change
Traditional:
2674T>C
Traditional:
Leu155Pro
HUGO:
g.3856T>C
HUGO:
p.Leu177Pro
CDS:
c.530T>C
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)