Gene >> BAP1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000460680 |
| Start |
52407990:52407990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.343A>C |
| AA Mutation |
p.Met115Leu(p.M115L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000460680 |
| Start |
52405296:52405296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.932-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |