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Detailed info
Owner:
trascasa-lab
Position:
exon 5
HAEUID:
163
Nucleotide change
Protein change
Traditional:
8382C>G
Traditional:
Pro226Arg
HUGO:
g.9564C>G
HUGO:
p.Pro248Arg
CDS:
c.743C>G
Effect:
pathogenic
Reference:
Roche et al. (Human Mutation 2005 26(2), 135-144)
Family history:
positive
No. of cases:
0
Notes:
ND
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(registered labs only)