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Detailed info
Owner:
Wuerzburg
Position:
exon 4
HAEUID:
241
Nucleotide change
Protein change
Traditional:
4368A>T
Traditional:
Leu168Stop
HUGO:
g.
HUGO:
p.Leu190Stop
CDS:
c.568A>T
Effect:
pathogenic
Reference:
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
Family history:
sporadic (negative)
No. of cases:
0
Notes:
ND
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(registered labs only)