Gene >> CHRNA5
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299565 |
| Start |
78590308:78590308(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.917C>T |
| AA Mutation |
p.Ser306Phe(p.S306F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000299565 |
| Start |
78590024:78590024(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.639delT |
| AA Mutation |
p.Phe213LeufsTer9(p.F213Lfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |