Detailed info
Owner: |
Wuerzburg |
Position: |
intron 6 |
HAEUID: |
284 |
Nucleotide change |
Protein change |
Traditional: |
8865_8868delAAGT |
Traditional: |
Splicing defect |
HUGO: |
g. |
HUGO: |
p. |
CDS: |
c.1029+3_1029+6delAAGT |
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 familiy |
Add note (registered labs only)
|