Gene >> CFTR
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003084 |
| Start |
117610603:117610603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3073G>A |
| AA Mutation |
p.Ala1025Thr(p.A1025T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003084 |
| Start |
117664809:117664809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777892053
|
| CDS Mutation |
c.4085G>A |
| AA Mutation |
p.Ser1362Asn(p.S1362N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |