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Detailed info
Owner:
Wuerzburg
Position:
exon 4
HAEUID:
215
Nucleotide change
Protein change
Traditional:
4471T>A
Traditional:
Ile202Asn
HUGO:
g.
HUGO:
p.Ile224Asn
CDS:
c.671T>A
Effect:
unknown
Reference:
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
Family history:
positive
No. of cases:
0
Notes:
3 members of 2 families
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(registered labs only)