Gene >> FANCI
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310775 |
| Start |
89283150:89283150(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368127142
|
| CDS Mutation |
c.1598G>A |
| AA Mutation |
p.Arg533Gln(p.R533Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310775 |
| Start |
89301429:89301429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2993C>T |
| AA Mutation |
p.Pro998Leu(p.P998L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |