Detailed info
Owner: |
trascasa-lab |
Position: |
intron 5 |
HAEUID: |
181 |
Nucleotide change |
Protein change |
Traditional: |
8530T>C |
Traditional: |
Asp207_Ser274del |
HUGO: |
g.9712T>C |
HUGO: |
p.Asp229_Ser296del |
CDS: |
c.889+2T>C |
Effect: |
pathogenic |
Reference: |
Roche O. et al (Human Mutation 2005 26(2), 135-144) |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
Exon 5 skipping |
Add note (registered labs only)
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