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Detailed info
Owner:
Wuerzburg
Position:
exon 4
HAEUID:
216
Nucleotide change
Protein change
Traditional:
4474T>C
Traditional:
Phe203Ser
HUGO:
g.
HUGO:
p.Phe225Ser
CDS:
c.675T>C
Effect:
unknown
Reference:
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
Family history:
positive
No. of cases:
0
Notes:
2 members of 2 families
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(registered labs only)