Gene >> GATA3
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346208 |
| Start |
8055823:8055823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.168A>C |
| AA Mutation |
p.Gln56His(p.Q56H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000346208 |
| Start |
8064015:8064016(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.802dupG |
| AA Mutation |
p.Ala268GlyfsTer35(p.A268Gfs*35) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |