Gene >> MBD1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269468 |
| Start |
50279940:50279940(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755717520
|
| CDS Mutation |
c.53G>A |
| AA Mutation |
p.Arg18His(p.R18H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000269468 |
| Start |
50271537:50271544(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1779-4_1782delCTAGGTCC |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |