Gene >> JAG1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254958 |
| Start |
10645238:10645238(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2132A>G |
| AA Mutation |
p.Glu711Gly(p.E711G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000254958 |
| Start |
10672993:10672993(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.95C>A |
| AA Mutation |
p.Ser32Ter(p.S32*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |