Detailed info
Owner: |
Rijavec-Golnik |
Position: |
exon 7 |
HAEUID: |
318 |
Nucleotide change |
Protein change |
Traditional: |
14185_14186insTA |
Traditional: |
Frameshift |
HUGO: |
g.15367_15368insTA |
HUGO: |
p.Leu396fs |
CDS: |
c.1184_1185insTA |
Effect: |
pathogenic |
Reference: |
Andrejević et al. (PLoS One. 2015;10(11):e0142174) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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