Gene >> PDCL2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295645 |
| Start |
55556679:55556679(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.604A>T |
| AA Mutation |
p.Ile202Leu(p.I202L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000295645 |
| Start |
55592102:55592102(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |