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Detailed info
Owner:
trascasa-lab
Position:
exon 4
HAEUID:
160
Nucleotide change
Protein change
Traditional:
4471T>G
Traditional:
Ile202Ser
HUGO:
g.5653T>G
HUGO:
p.Ile224Ser
CDS:
c.671T>G
Effect:
pathogenic
Reference:
Roche O. 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)