Gene >> CHD5
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6109916:6109916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5457C>A |
| AA Mutation |
p.Asn1819Lys(p.N1819K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6109917:6109918(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5454_5455dupCA |
| AA Mutation |
p.Asn1819ThrfsTer44(p.N1819Tfs*44) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |