Gene >> PDX1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381033 |
| Start |
27924475:27924475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771445149
|
| CDS Mutation |
c.626G>A |
| AA Mutation |
p.Arg209His(p.R209H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000381033 |
| Start |
27924576:27924576(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.732delC |
| AA Mutation |
p.Gly245GlufsTer61(p.G245Efs*61) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |