Gene >> TLR1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308979 |
| Start |
38796580:38796580(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2252C>T |
| AA Mutation |
p.Ala751Val(p.A751V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000308979 |
| Start |
38798111:38798111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.721C>T |
| AA Mutation |
p.Gln241Ter(p.Q241*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |