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Detailed info
Owner:
admin
Position:
exon 8
HAEUID:
116
Nucleotide change
Protein change
Traditional:
16774C>T
Traditional:
Ala439Val
HUGO:
g.17956C>T
HUGO:
p.Ala461Val
CDS:
c.1364C>T
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
Add note
(registered labs only)