Detailed info
Owner: |
tosi-lab |
Position: |
exon 5 |
HAEUID: |
24 |
Nucleotide change |
Protein change |
Traditional: |
8346T>C |
Traditional: |
Phe214Ser |
HUGO: |
g.9528T>C |
HUGO: |
p.Phe236Ser |
CDS: |
c.717T>C |
Effect: |
unknown |
Reference: |
Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
Method: FAMA followed by sequencing
Probably pathogenic because all exons screened and highly conserved amino acid in serpins |
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