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Detailed info
Owner:
admin
Position:
exon 6
HAEUID:
89
Nucleotide change
Protein change
Traditional:
8735C>A
Traditional:
Thr279Lys
HUGO:
g.9917C>A
HUGO:
p.Thr301Lys
CDS:
c.902C>A
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)