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Detailed info
Owner:
trascasa-lab
Position:
intron 3
HAEUID:
174
Nucleotide change
Protein change
Traditional:
2699G>C
Traditional:
HUGO:
g.3881G>C
HUGO:
p.
CDS:
c.550+5G>C
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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