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Detailed info
Owner:
Wuerzburg
Position:
exon 8
HAEUID:
234
Nucleotide change
Protein change
Traditional:
16788C>G
Traditional:
Arg444Gly
HUGO:
g.17970C>G
HUGO:
p.Arg466Gly
CDS:
c.1396C>G
Effect:
pathogenic
Reference:
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
Family history:
positive
No. of cases:
0
Notes:
4 members of 1 family
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(registered labs only)