Gene >> PLXDC1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315392 |
| Start |
39087619:39087619(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.895A>G |
| AA Mutation |
p.Thr299Ala(p.T299A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000315392 |
| Start |
39077920:39077920(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1179delC |
| AA Mutation |
p.Thr394GlnfsTer7(p.T394Qfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |