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Entrez Gene ID: | 80207 |
Gene Name: | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) |
Gene Aliases: |
MGA3 |
Location: |
Chr.19:45527767-45584864 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OPA3 | NM_001017989.2 | 2 | 777 | NP_001017989.2 |
AK098798.1 | 2 | 755 | BAC05415.1 | |
BC047316.1 | 2 | 698 | AAH47316.1 | |
BC064146.1 | 2 | 689 | AAH64146.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833848 | Chr.19:45457372 - 45644939 on Build GRCh38 | Loss | OPA3 MIR330 RTN2 ERCC1 EML2 EML2-AS1 PPM1N VASP FOSB GPR4 |
Set Membership: |
Intragenic Exonic DGV Variation |