Gene >> PKHD1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371117 |
| Start |
52025459:52025459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4351C>G |
| AA Mutation |
p.Pro1451Ala(p.P1451A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371117 |
| Start |
52056701:52056701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765251347
|
| CDS Mutation |
c.1690C>T |
| AA Mutation |
p.Arg564Ter(p.R564*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |