Gene >> ATP7B
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242839 |
| Start |
51958501:51958501(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2165T>G |
| AA Mutation |
p.Leu722Arg(p.L722R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242839 |
| Start |
51975132:51975132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.88G>A |
| AA Mutation |
p.Glu30Lys(p.E30K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |