Detailed info
Owner: |
sevilla_lab |
Position: |
exon 8 |
HAEUID: |
202 |
Nucleotide change |
Protein change |
Traditional: |
16830G>A |
Traditional: |
Val458Met |
HUGO: |
g.18012G>A |
HUGO: |
p.Val480Met |
CDS: |
c.1438G>A |
Effect: |
polymorphism |
Reference: |
Unpublished sequence variation |
Family history: |
sporadic (negative) |
No. of cases: |
3 |
Notes: |
ND |
Add note (registered labs only)
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