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)
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