Gene >> TMEM173
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330794 |
| Start |
139480805:139480805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.505C>T |
| AA Mutation |
p.Arg169Trp(p.R169W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330794 |
| Start |
139480827:139480827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.483G>A |
| AA Mutation |
p.Trp161Ter(p.W161*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |