Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
100 |
Nucleotide change |
Protein change |
Traditional: |
16661_16662insA |
Traditional: |
Frameshift |
HUGO: |
g.17843_17844insA |
HUGO: |
p.Tyr423fs |
CDS: |
c.1269_1270insA |
Effect: |
pathogenic |
Reference: |
Frangi D et al (J Clin Invest. 1991 Sep;88(3):755-9.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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