Gene >> ATP11C
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327569 |
| Start |
139796349:139796349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1139A>T |
| AA Mutation |
p.Asp380Val(p.D380V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327569 |
| Start |
139757838:139757838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2679G>C |
| AA Mutation |
p.Leu893Phe(p.L893F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |