Gene >> PRPF6
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266079 |
| Start |
64022832:64022832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1723A>T |
| AA Mutation |
p.Ser575Cys(p.S575C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266079 |
| Start |
63995397:63995397(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.686G>A |
| AA Mutation |
p.Gly229Glu(p.G229E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |