Detailed info
Owner: |
drouet_lab |
Position: |
exon 5 |
HAEUID: |
205 |
Nucleotide change |
Protein change |
Traditional: |
8517_8520delTCTA |
Traditional: |
Frameshift stop 272 |
HUGO: |
g.9699_9702delTCTA |
HUGO: |
p.Ile271fs |
CDS: |
c.878-881delTCTA |
Effect: |
pathogenic |
Reference: |
Monnier et al. (Mol Immunol 2006 Jul;43(14):2161-8) |
Family history: |
positive |
No. of cases: |
2 |
Notes: |
de novo mutation |
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