Detailed info
Owner: |
tosi-lab |
Position: |
exon 6 |
HAEUID: |
28 |
Nucleotide change |
Protein change |
Traditional: |
8741T>G |
Traditional: |
Phe281Cys |
HUGO: |
g.9923T>G |
HUGO: |
p.Phe303Cys |
CDS: |
c.880T>G |
Effect: |
pathogenic |
Reference: |
Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
Method: FAMA followed by sequencing
Amino acid conserved in at least 10 serpins |
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