Gene >> ADGRE3
| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000253673 |
| Start |
14630041:14630041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1810C>A |
| AA Mutation |
p.Gln604Lys(p.Q604K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253673 |
| Start |
14641465:14641465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1202T>A |
| AA Mutation |
p.Leu401Gln(p.L401Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |