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Detailed info
Owner:
admin
Position:
exon 8
HAEUID:
104
Nucleotide change
Protein change
Traditional:
16789G>A
Traditional:
Arg444His
HUGO:
g.17971G>A
HUGO:
p.Arg466His
CDS:
c.1397G>A
Effect:
pathogenic
Reference:
Skriver K et al (J Biol Chem. 1989 Feb 25;264(6):3066-71.)
Family history:
unknown
No. of cases:
0
Notes:
ND
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(registered labs only)