Detailed info
Owner: |
tosi-lab |
Position: |
intron 6 |
HAEUID: |
34 |
Nucleotide change |
Protein change |
Traditional: |
14030G>C |
Traditional: |
splicing defect |
HUGO: |
g.15212G>C |
HUGO: |
p.- |
CDS: |
c.1030-1G>C |
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)
|