Gene >> KDM5A
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399788 |
| Start |
323184:323184(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2173C>T |
| AA Mutation |
p.Leu725Phe(p.L725F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399788 |
| Start |
389040:389040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.52G>C |
| AA Mutation |
p.Glu18Gln(p.E18Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |