Gene >> MYH9
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216181 |
| Start |
36309386:36309386(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1739A>C |
| AA Mutation |
p.Lys580Thr(p.K580T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216181 |
| Start |
36289134:36289134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs549408311
|
| CDS Mutation |
c.4508G>A |
| AA Mutation |
p.Arg1503His(p.R1503H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |