Gene >> BBS5
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295240 |
| Start |
169493805:169493805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.587G>T |
| AA Mutation |
p.Ser196Ile(p.S196I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295240 |
| Start |
169504571:169504571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1015G>C |
| AA Mutation |
p.Val339Leu(p.V339L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |