Gene >> PRB2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389362 |
| Start |
11393764:11393764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.314G>T |
| AA Mutation |
p.Gly105Val(p.G105V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389362 |
| Start |
11393225:11393225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.853G>T |
| AA Mutation |
p.Gly285Ter(p.G285*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |