Gene >> MMP3
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299855 |
| Start |
102836159:102836159(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1401C>A |
| AA Mutation |
p.His467Gln(p.H467Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299855 |
| Start |
102837349:102837349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1282G>T |
| AA Mutation |
p.Glu428Ter(p.E428*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |