Detailed info
Owner: |
Wuerzburg |
Position: |
exon 8 |
HAEUID: |
233 |
Nucleotide change |
Protein change |
Traditional: |
16734G>C |
Traditional: |
Glu426Gln |
HUGO: |
g. |
HUGO: |
p.Glu448Gln |
CDS: |
c.1342G>C |
Effect: |
unknown |
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 familiy, they have all another mutation Cys406Arg on the same allele |
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