NM_001017989.3(OPA3):c.143-17370G>A AND 3-Methylglutaconic aciduria type 3
Significance: | Uncertain significance |
---|---|
ClinVar: | RCV000273250 |
Variant: NM_001017989.3(OPA3):c.143-17370G>A |
|
Type: | Variant |
Allele: NM_001017989.3(OPA3):c.143-17370G>A 349097 |
|
Gene: | OPA3 |
Type: | single nucleotide variant |
Location: |
Chr19: 46050084
- assembly
GRCh37 Chr19: 45546826 - assembly GRCh38 |
References: | dbSNP:
181576269 Illumina Clinical Services Laboratory,Illumina: 163394 |
Condition |
|
Disease: | 3-Methylglutaconic aciduria type 3 |