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Detailed info
Owner:
admin
Position:
exon 8
HAEUID:
112
Nucleotide change
Protein change
Traditional:
16764G>A
Traditional:
Ala436Thr
HUGO:
g.17946G>A
HUGO:
p.Ala458Thr
CDS:
c.1372G>A
Effect:
pathogenic
Reference:
Levy NJ et al (Proc Natl Acad Sci U S A. 1990 Jan;87(1):265-8.)
Family history:
unknown
No. of cases:
0
Notes:
ND
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(registered labs only)