Gene >> ALS2CR12
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286190 |
| Start |
201348278:201348278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.210A>C |
| AA Mutation |
p.Gln70His(p.Q70H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286190 |
| Start |
201351347:201351347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759419207
|
| CDS Mutation |
c.58C>T |
| AA Mutation |
p.Arg20Trp(p.R20W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |