Gene >> FGF19
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294312 |
| Start |
69699407:69699407(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.506T>C |
| AA Mutation |
p.Leu169Pro(p.L169P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000294312 |
| Start |
69699338:69699339(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.574dupC |
| AA Mutation |
p.Leu192ProfsTer24(p.L192Pfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |