Detailed info
Owner: |
trascasa-lab |
Position: |
intron 3 |
HAEUID: |
176 |
Nucleotide change |
Protein change |
Traditional: |
4349delA |
Traditional: |
Gly162_pro206del |
HUGO: |
g.5531delA |
HUGO: |
p.Gly184_Pro228del |
CDS: |
c.551-2delA |
Effect: |
pathogenic |
Reference: |
Roche et al. (Human Mutation 2005 26(2), 135-144) |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
Exon 4 skipping |
Add note (registered labs only)
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