Gene >> ATG7
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354449 |
| Start |
11331419:11331419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.758C>A |
| AA Mutation |
p.Ala253Asp(p.A253D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354449 |
| Start |
11426848:11426848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2001G>T |
| AA Mutation |
p.Lys667Asn(p.K667N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |