Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
117 |
Nucleotide change |
Protein change |
Traditional: |
16786G>A |
Traditional: |
Ala443Val |
HUGO: |
g.17968G>A |
HUGO: |
p.Ala465Val |
CDS: |
c.1394G>A |
Effect: |
pathogenic |
Reference: |
Zahedi R et al (J Clin Invest. 1995 Mar;95(3):1299-305.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
|