Detailed info
Owner: |
tosi-lab |
Position: |
exon 6 |
HAEUID: |
30 |
Nucleotide change |
Protein change |
Traditional: |
8814delCA |
Traditional: |
frameshift |
HUGO: |
g.9996_9997del |
HUGO: |
p.Ser327fs |
CDS: |
c.981_982del |
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
|
Add note (registered labs only)
|