Gene >> SMARCA1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129490081:129490081(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1927G>A |
| AA Mutation |
p.Asp643Asn(p.D643N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371122 |
| Start |
129448365:129448365(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3109G>T |
| AA Mutation |
p.Glu1037Ter(p.E1037*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |