Gene >> ECT2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172755302:172755302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776600254
|
| CDS Mutation |
c.138G>C |
| AA Mutation |
p.Met46Ile(p.M46I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172761675:172761678(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.753_756delTGAA |
| AA Mutation |
p.Glu252ArgfsTer24(p.E252Rfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |