Gene >> DNASE2B
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370665 |
| Start |
84398644:84398644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.80C>T |
| AA Mutation |
p.Ala27Val(p.A27V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370665 |
| Start |
84398639:84398639(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.79delG |
| AA Mutation |
p.Ala27GlnfsTer35(p.A27Qfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |