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Detailed info
Owner:
admin
Position:
exon 8
HAEUID:
111
Nucleotide change
Protein change
Traditional:
16759C>A
Traditional:
Ala434Glu
HUGO:
g.17941C>A
HUGO:
p.Ala456Glu
CDS:
c.1367C>A
Effect:
pathogenic
Reference:
Skriver K et al (J Biol Chem. 1991 May 15;266(14):9216-21.)
Family history:
unknown
No. of cases:
0
Notes:
ND
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(registered labs only)