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Detailed info
Owner:
Wuerzburg
Position:
exon 6
HAEUID:
243
Nucleotide change
Protein change
Traditional:
8730G>A
Traditional:
Trp277Stop
HUGO:
g.
HUGO:
p.Trp299Stop
CDS:
c.897G>A
Effect:
pathogenic
Reference:
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
Family history:
positive
No. of cases:
0
Notes:
3 members of 1 family
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(registered labs only)