Gene >> LMNA
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368300 |
| Start |
156136414:156136414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267607598
|
| CDS Mutation |
c.1358G>A |
| AA Mutation |
p.Arg453Gln(p.R453Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000368300 |
| Start |
156115010:156115012(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.94_96delAAG |
| AA Mutation |
p.Lys32del(p.K32del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |