Gene >> PRICKLE1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000345127 |
| Start |
42460056:42460056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2249G>A |
| AA Mutation |
p.Arg750Gln(p.R750Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000345127 |
| Start |
42466262:42466262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.707G>A |
| AA Mutation |
p.Arg236His(p.R236H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |