Gene >> PAX4
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341640 |
| Start |
127613798:127613798(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763356440
|
| CDS Mutation |
c.496C>T |
| AA Mutation |
p.Arg166Trp(p.R166W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000341640 |
| Start |
127611676:127611676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.748C>A |
| AA Mutation |
p.Gln250Lys(p.Q250K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |