Gene >> NOS1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117278062:117278062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1561C>T |
| AA Mutation |
p.Arg521Cys(p.R521C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117265384:117265384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2068G>A |
| AA Mutation |
p.Gly690Arg(p.G690R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |