Gene >> MGAT2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305386 |
| Start |
49622355:49622355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1087A>C |
| AA Mutation |
p.Lys363Gln(p.K363Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305386 |
| Start |
49622499:49622502(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs776720499
|
| CDS Mutation |
c.1234_1237delACTA |
| AA Mutation |
p.Thr412SerfsTer8(p.T412Sfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |