| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu2579X |
c.7736T>A |
53 |
2579 |
CRD-repeat #21 |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6470 |
---MD_FR#F3429716431 | M |
|
FR |
|
0 |
|
| p.Leu2579X |
c.7736T>G |
53 |
2579 |
CRD-repeat #21 |
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1053 |
---MD_CH#75 | M |
|
CH |
|
0 |
|