Gene >> GRB7
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309156 |
| Start |
39744094:39744094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.688C>T |
| AA Mutation |
p.Pro230Ser(p.P230S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309156 |
| Start |
39746153:39746154(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1405dupC |
| AA Mutation |
p.Leu469ProfsTer29(p.L469Pfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |