Gene >> TFAP2E
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373235 |
| Start |
35574985:35574985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.547T>A |
| AA Mutation |
p.Ser183Thr(p.S183T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373235 |
| Start |
35588535:35588535(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.773delG |
| AA Mutation |
p.Gly258ValfsTer19(p.G258Vfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |