Gene >> PLEK
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234313 |
| Start |
68386507:68386507(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.478T>A |
| AA Mutation |
p.Cys160Ser(p.C160S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000234313 |
| Start |
68395711:68395711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.948G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |