Gene >> MMS19
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370782 |
| Start |
97476895:97476895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143513996
|
| CDS Mutation |
c.562C>T |
| AA Mutation |
p.Arg188Cys(p.R188C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000370782 |
| Start |
97460047:97460047(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2655delA |
| AA Mutation |
p.Asp886MetfsTer2(p.D886Mfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |