Gene >> LRRC8A
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259324 |
| Start |
128907777:128907777(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764489463
|
| CDS Mutation |
c.613G>A |
| AA Mutation |
p.Val205Met(p.V205M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259324 |
| Start |
128907720:128907720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.556G>T |
| AA Mutation |
p.Ala186Ser(p.A186S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |