Gene >> NR5A2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200048187:200048187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762746404
|
| CDS Mutation |
c.479G>A |
| AA Mutation |
p.Arg160Gln(p.R160Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367362 |
| Start |
200039675:200039675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs537463980
|
| CDS Mutation |
c.82C>T |
| AA Mutation |
p.Arg28Ter(p.R28*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |