Gene >> PRICKLE1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000345127 |
| Start |
42460527:42460527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1778A>G |
| AA Mutation |
p.Glu593Gly(p.E593G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000345127 |
| Start |
42468747:42468747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775872848
|
| CDS Mutation |
c.467T>C |
| AA Mutation |
p.Phe156Ser(p.F156S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |