Gene >> SLC17A5
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355773 |
| Start |
73595100:73595100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779656808
|
| CDS Mutation |
c.1465G>C |
| AA Mutation |
p.Asp489His(p.D489H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355773 |
| Start |
73641867:73641867(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs772039085
|
| CDS Mutation |
c.349delT |
| AA Mutation |
p.Tyr117MetfsTer17(p.Y117Mfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |