Gene >> ARSA
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216124 |
| Start |
50626660:50626660(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.785C>A |
| AA Mutation |
p.Thr262Asn(p.T262N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000216124 |
| Start |
50626833:50626833(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146371968
|
| CDS Mutation |
c.684+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |