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Detailed info
Owner:
trascasa-lab
Position:
exon 4
HAEUID:
157
Nucleotide change
Protein change
Traditional:
4378T>C
Traditional:
Leu171Pro
HUGO:
g.5560T>C
HUGO:
p.Leu193Pro
CDS:
c.578T>C
Effect:
pathogenic
Reference:
Roche O et al. (Human Mutation 2005 26 (2),135-144)
Family history:
positive
No. of cases:
0
Notes:
nothing
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(registered labs only)