Detailed info
Owner: |
tosi-lab |
Position: |
exon 8 |
HAEUID: |
41 |
Nucleotide change |
Protein change |
Traditional: |
16834T>C |
Traditional: |
Leu459Pro |
HUGO: |
g.18016T>C |
HUGO: |
p.Leu481Pro |
CDS: |
c.1442T>C |
Effect: |
pathogenic |
Reference: |
Verpy et al., 1995; 95:350-359 |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
Method: Chemical cleavage of mismatch followed by sequencing.
Not secreted |
Add note (registered labs only)
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