Gene >> EPM2A
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367519 |
| Start |
145686155:145686155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.443A>C |
| AA Mutation |
p.Asn148Thr(p.N148T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367519 |
| Start |
145735342:145735342(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.157delG |
| AA Mutation |
p.Ala53ProfsTer37(p.A53Pfs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |