Gene >> PRRT2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358758 |
| Start |
29813481:29813481(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.427G>T |
| AA Mutation |
p.Asp143Tyr(p.D143Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358758 |
| Start |
29813514:29813514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs571941412
|
| CDS Mutation |
c.460C>T |
| AA Mutation |
p.Pro154Ser(p.P154S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |