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Detailed info
Owner:
Wuerzburg
Position:
exon 3
HAEUID:
240
Nucleotide change
Protein change
Traditional:
2544G>T
Traditional:
Glu112Stop
HUGO:
g.
HUGO:
p.Glu134Stop
CDS:
c.400G>T
Effect:
pathogenic
Reference:
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
Family history:
positive
No. of cases:
0
Notes:
6 members of 1 family
Add note
(registered labs only)