NM_001017989.3(OPA3):c.143-23636C>T AND 3-Methylglutaconic aciduria type 3
| Significance: | Likely benign |
|---|---|
| ClinVar: | RCV000280403 |
Variant: NM_001017989.3(OPA3):c.143-23636C>T |
|
| Type: | Variant |
Allele: NM_001017989.3(OPA3):c.143-23636C>T 349181 |
|
| Gene: | OPA3 |
| Type: | single nucleotide variant |
| Location: |
Chr19: 46056350
- assembly
GRCh37 Chr19: 45553092 - assembly GRCh38 |
| References: | dbSNP:
116977551 Illumina Clinical Services Laboratory,Illumina: 201476 |
Condition |
|
| Disease: | 3-Methylglutaconic aciduria type 3 |