Gene >> MCM4
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262105 |
| Start |
47969918:47969918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1295T>G |
| AA Mutation |
p.Leu432Arg(p.L432R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000262105 |
| Start |
47969781:47969818(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1175-17_1195delCCTGGTTGTGCCCTCAGGCATCTATCGAGCTGTGCCTA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |