Gene >> HCFC1R1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000248089 |
| Start |
3023913:3023913(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.29G>C |
| AA Mutation |
p.Gly10Ala(p.G10A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000248089 |
| Start |
3023265:3023265(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs768523777
|
| CDS Mutation |
c.249delC |
| AA Mutation |
p.Met84Ter(p.M84*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |