Gene >> AMBRA1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458649 |
| Start |
46541961:46541961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2056G>A |
| AA Mutation |
p.Glu686Lys(p.E686K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458649 |
| Start |
46508302:46508302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763567052
|
| CDS Mutation |
c.2228A>G |
| AA Mutation |
p.Gln743Arg(p.Q743R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |