Gene >> HOXB13
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290295 |
| Start |
48728082:48728082(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.512C>A |
| AA Mutation |
p.Ser171Tyr(p.S171Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000290295 |
| Start |
48727042:48727043(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.602_603insGACCTTTGGGGGTCTGGAAC |
| AA Mutation |
p.Asp201GlufsTer85(p.D201Efs*85) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |