Gene >> PFKM
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312352 |
| Start |
48134267:48134267(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.629G>A |
| AA Mutation |
p.Arg210His(p.R210H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312352 |
| Start |
48137838:48137838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1054G>A |
| AA Mutation |
p.Val352Ile(p.V352I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |