Gene >> RHBDF2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313080 |
| Start |
76472022:76472022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2182C>T |
| AA Mutation |
p.Leu728Phe(p.L728F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313080 |
| Start |
76471899:76471899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2305G>A |
| AA Mutation |
p.Asp769Asn(p.D769N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |