Gene >> CCDC54
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261058 |
| Start |
107377919:107377919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.332G>A |
| AA Mutation |
p.Arg111Lys(p.R111K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261058 |
| Start |
107378395:107378395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.808G>A |
| AA Mutation |
p.Glu270Lys(p.E270K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |