Gene >> PER1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317276 |
| Start |
8147785:8147785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1277G>A |
| AA Mutation |
p.Arg426His(p.R426H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317276 |
| Start |
8146636:8146637(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1864dupA |
| AA Mutation |
p.Ser622LysfsTer27(p.S622Kfs*27) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |