| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS19+2T>C (c.2380+2T>C) |
19-20 |
794 |
|
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15949 |
---MD-US#346 | M |
|
US |
|
0 |
|
|
c.IVS19-2A>G (c.2381-2A>G) |
19-20 |
794 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13363 |
---#D132 | M |
|
NL |
|
0 |
|