Gene >> ST6GALNAC3
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328299 |
| Start |
76628703:76628703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750135866
|
| CDS Mutation |
c.815C>T |
| AA Mutation |
p.Ala272Val(p.A272V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328299 |
| Start |
76627550:76627550(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.723delC |
| AA Mutation |
p.Tyr242ThrfsTer54(p.Y242Tfs*54) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |