Gene >> NR1H4
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000551379 |
| Start |
100561983:100561983(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1207G>T |
| AA Mutation |
p.Val403Phe(p.V403F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000551379 |
| Start |
100503459:100503460(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.77dupT |
| AA Mutation |
p.Met27HisfsTer62(p.M27Hfs*62) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |