Gene >> MEF2D
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348159 |
| Start |
156468129:156468129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1418C>T |
| AA Mutation |
p.Pro473Leu(p.P473L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348159 |
| Start |
156468049:156468049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1498G>A |
| AA Mutation |
p.Ala500Thr(p.A500T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |