Gene >> RBL1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373664 |
| Start |
37061227:37061227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1126T>C |
| AA Mutation |
p.Tyr376His(p.Y376H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373664 |
| Start |
37095874:37095874(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.55G>T |
| AA Mutation |
p.Glu19Ter(p.E19*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |