Gene >> FAM83D
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000619850 |
| Start |
38947910:38947910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.686A>G |
| AA Mutation |
p.Tyr229Cys(p.Y229C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000619850 |
| Start |
38952346:38952355(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1587_1596delAGAGCGGCAA |
| AA Mutation |
p.Lys529AsnfsTer47(p.K529Nfs*47) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |