Gene >> GBA
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327247 |
| Start |
155238546:155238546(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.559A>T |
| AA Mutation |
p.Ser187Cys(p.S187C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000327247 |
| Start |
155238628:155238628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs75249684
|
| CDS Mutation |
c.477G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |