Gene >> GJB1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361726 |
| Start |
71224515:71224515(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.808G>A |
| AA Mutation |
p.Gly270Arg(p.G270R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361726 |
| Start |
71223716:71223716(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9G>C |
| AA Mutation |
p.Trp3Cys(p.W3C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |