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Detailed info
Owner:
admin
Position:
exon 8
HAEUID:
120
Nucleotide change
Protein change
Traditional:
16869G>A
Traditional:
Gly471Arg
HUGO:
g.18051G>A
HUGO:
p.Gly493Arg
CDS:
c.1477G>A
Effect:
pathogenic
Reference:
Sugiyama E et al (Arthritis Rheum. 2001 Apr;44(4):974-7.)
Family history:
unknown
No. of cases:
0
Notes:
ND
Add note
(registered labs only)