Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
TGCCCTTTTTAAATT |
| TGCCCTTTTTAGATT |
| 35.3 % |
Data for this mutation
Sample ID | APC | MLH1 | MSH2 | MSH6 | MUTYH |
---|---|---|---|---|---|
19_25083---25083-001 | - | - | - | - | - |
33_SAT554---10-601 | - | - | - | - | - |
7_-802ILP0611335E061265 | - | - | - | - | - |
7_-802ILP0711063E071187 | - | - | - | - | - |
SO_-802G04527G04527 | - | - | - | - | - |
SO_-802G04528G04528 | - | - | - | - | - |
Analysis | Result | Date | Origin | PMID/dbSNP |
---|---|---|---|---|
Cosegregation analysis | LOD score: 1,2 | 22/07/13 | 7 | |
Ex vivo analysis | Splicing reporter minigene pCas: insertion of 5 nt of intron 10 | 22/07/13 | 19 |
Biological significance | Date | Comment |
---|---|---|
Causal | 22/07/13 | --- |