Gene >> PLEKHA5
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299275 |
| Start |
19358246:19358246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2659G>A |
| AA Mutation |
p.Val887Met(p.V887M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299275 |
| Start |
19283350:19283350(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1366G>A |
| AA Mutation |
p.Glu456Lys(p.E456K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |