GENETIC ENCYCLOPEDIA
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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:
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