Gene >> CRX
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221996 |
| Start |
47839686:47839686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376982187
|
| CDS Mutation |
c.619G>A |
| AA Mutation |
p.Ala207Thr(p.A207T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221996 |
| Start |
47839656:47839656(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.589C>A |
| AA Mutation |
p.Pro197Thr(p.P197T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |