Gene >> CGB5
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301408 |
| Start |
49045076:49045076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.280C>T |
| AA Mutation |
p.Arg94Cys(p.R94C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000301408 |
| Start |
49045229:49045229(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.438delC |
| AA Mutation |
p.Ser147AlafsTer?(p.S147Afs*?) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |