Gene >> IGFALS
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215539 |
| Start |
1791476:1791476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.942C>A |
| AA Mutation |
p.His314Gln(p.H314Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215539 |
| Start |
1791151:1791151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1267G>C |
| AA Mutation |
p.Val423Leu(p.V423L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |