Gene >> ARRB1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000420843 |
| Start |
75274188:75274188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200557530
|
| CDS Mutation |
c.800C>T |
| AA Mutation |
p.Thr267Met(p.T267M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000420843 |
| Start |
75284251:75284251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.141T>A |
| AA Mutation |
p.Tyr47Ter(p.Y47*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |