Detailed info
Owner: |
Rijavec-Golnik |
Position: |
exon 3 |
HAEUID: |
302 |
Nucleotide change |
Protein change |
Traditional: |
2593C>T |
Traditional: |
Ser128Phe |
HUGO: |
g.3775C>T |
HUGO: |
p.Ser150Phe |
CDS: |
c.449C>T |
Effect: |
pathogenic |
Reference: |
Rijavec M. et al. PLoS ONE 2013 8(2): e56712 |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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