Gene >> L1CAM
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370060 |
| Start |
153872599:153872599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.190G>C |
| AA Mutation |
p.Glu64Gln(p.E64Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370060 |
| Start |
153870176:153870176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.871C>T |
| AA Mutation |
p.Gln291Ter(p.Q291*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |