Gene >> CAPNS1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000246533 |
| Start |
36146051:36146051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745343077
|
| CDS Mutation |
c.601G>A |
| AA Mutation |
p.Ala201Thr(p.A201T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000246533 |
| Start |
36142299:36142299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.210-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |