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Detailed info
Owner:
Wuerzburg
Position:
exon 3
HAEUID:
213
Nucleotide change
Protein change
Traditional:
2646G>C
Traditional:
Ala146Pro
HUGO:
g.
HUGO:
p.ala168Pro
CDS:
c.502G>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 1 family
Add note
(registered labs only)