Gene >> PDLIM7
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355841 |
| Start |
177483723:177483723(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1295A>C |
| AA Mutation |
p.Gln432Pro(p.Q432P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355841 |
| Start |
177491058:177491058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748660598
|
| CDS Mutation |
c.487C>T |
| AA Mutation |
p.Gln163Ter(p.Q163*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |