Gene >> MYOD1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250003 |
| Start |
17720925:17720925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762738028
|
| CDS Mutation |
c.654C>A |
| AA Mutation |
p.Ser218Arg(p.S218R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250003 |
| Start |
17719964:17719964(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.182A>G |
| AA Mutation |
p.Glu61Gly(p.E61G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |