Gene >> KRT6A
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52490670:52490670(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373927281
|
| CDS Mutation |
c.976C>T |
| AA Mutation |
p.Arg326Cys(p.R326C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52493130:52493130(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.59C>T |
| AA Mutation |
p.Ala20Val(p.A20V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |