Detailed info
Owner: |
admin |
Position: |
intron 6 |
HAEUID: |
93 |
Nucleotide change |
Protein change |
Traditional: |
8863G>T |
Traditional: |
Splicing defect |
HUGO: |
g.10045G>T |
HUGO: |
p.- |
CDS: |
c.1029+1G>T |
Effect: |
pathogenic |
Reference: |
Siddique Z et al (Hum Genet. 1991 Dec;88(2):231-2.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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