Detailed info
Owner: |
admin |
Position: |
intron 5 |
HAEUID: |
153 |
Nucleotide change |
Protein change |
Traditional: |
8722G>A |
Traditional: |
Splicing defect |
HUGO: |
g.9904G>A |
HUGO: |
p.- |
CDS: |
c.890-1G>A |
Effect: |
pathogenic |
Reference: |
Sekijima Y et al (Intern Med. 2004 Mar;43(3):253-5) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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