Gene >> ABCG1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361802 |
| Start |
42225910:42225910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.282G>T |
| AA Mutation |
p.Lys94Asn(p.K94N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000398457 |
| Start |
42201717:42201717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.42C>A |
| AA Mutation |
p.Cys14Ter(p.C14*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |