Gene >> HOOK2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397668 |
| Start |
12763572:12763572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370952243
|
| CDS Mutation |
c.1966C>T |
| AA Mutation |
p.Arg656Trp(p.R656W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000397668 |
| Start |
12771306:12771306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.614C>G |
| AA Mutation |
p.Ser205Ter(p.S205*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |