Gene >> TP53BP1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263801 |
| Start |
43456543:43456543(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2050A>C |
| AA Mutation |
p.Met684Leu(p.M684L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263801 |
| Start |
43456771:43456771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1822G>T |
| AA Mutation |
p.Glu608Ter(p.E608*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |