Gene >> LDLR
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000558518 |
| Start |
11106628:11106628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139507589
|
| CDS Mutation |
c.758G>A |
| AA Mutation |
p.Arg253Gln(p.R253Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000558518 |
| Start |
11102706:11102706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146675823
|
| CDS Mutation |
c.233G>T |
| AA Mutation |
p.Arg78Leu(p.R78L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |