Gene >> PMEPA1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341744 |
| Start |
57652531:57652531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.386G>A |
| AA Mutation |
p.Arg129His(p.R129H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000341744 |
| Start |
57652293:57652293(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.624delC |
| AA Mutation |
p.Ser209AlafsTer61(p.S209Afs*61) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |