Detailed info
Owner: |
tosi-lab |
Position: |
exon 8 |
HAEUID: |
44 |
Nucleotide change |
Protein change |
Traditional: |
16884C>T |
Traditional: |
Pro476Ser |
HUGO: |
g.18066C>T |
HUGO: |
p.Pro498Ser |
CDS: |
c.1493C>T |
Effect: |
pathogenic |
Reference: |
Verpy et al,, J Clin Invest 1995; 95:350-359 |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
Method: Chemical cleavage of mismatch followed by sequencing. Reduced secretion, unable to bind C1s. |
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