Gene >> TEK
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380036 |
| Start |
27197486:27197486(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756064806
|
| CDS Mutation |
c.1796C>T |
| AA Mutation |
p.Ser599Leu(p.S599L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380036 |
| Start |
27158049:27158049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.271G>T |
| AA Mutation |
p.Glu91Ter(p.E91*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |