Detailed info
| Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
146 |
| Nucleotide change |
Protein change |
| Traditional: |
16657delC |
Traditional: |
Frameshift |
| HUGO: |
g.17839del |
HUGO: |
p.Ser422fs |
| CDS: |
c.1265del |
Effect: |
pathogenic |
| Reference: |
Zhi YX et al. (Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2003 Dec; 25(6): 664-6) |
| Family history: |
unknown |
No. of cases: |
0 |
| Notes: |
Published as 17839 del C (position in X54486 GeneBank sequence). Mutation was found in 5 patients. Not found in 30 healthy controls. |
Add note (registered labs only)
|
