Gene >> DIAPH2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324765 |
| Start |
96930761:96930761(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1007T>G |
| AA Mutation |
p.Leu336Arg(p.L336R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000324765 |
| Start |
97072939:97072939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2051-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |