Gene >> DLGAP5
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55151863:55151863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761462822
|
| CDS Mutation |
c.2200G>A |
| AA Mutation |
p.Ala734Thr(p.A734T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000247191 |
| Start |
55169461:55169461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs565083852
|
| CDS Mutation |
c.1486C>T |
| AA Mutation |
p.Arg496Ter(p.R496*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |