Gene >> MCPH1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344683 |
| Start |
6444450:6444450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.728G>T |
| AA Mutation |
p.Gly243Val(p.G243V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344683 |
| Start |
6444771:6444771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1049G>T |
| AA Mutation |
p.Arg350Met(p.R350M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |