Detailed info
Owner: |
trascasa-lab |
Position: |
intron 7 |
HAEUID: |
182 |
Nucleotide change |
Protein change |
Traditional: |
14252delT |
Traditional: |
Val322_Leu394>Asnfs |
HUGO: |
g.15434delT |
HUGO: |
p.Val344_Leu416>Asnfs |
CDS: |
c.1249+2delT |
Effect: |
pathogenic |
Reference: |
Roche O. et al. (Human Mutation 2005 26(2), 135-144) |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
Exon 7 skipping |
Add note (registered labs only)
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