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NM_001017989.3(OPA3):c.143-22963C>A AND 3-Methylglutaconic aciduria type 3

Significance: Likely benign
ClinVar: RCV000265327

Variant: NM_001017989.3(OPA3):c.143-22963C>A

Type: Variant
Allele: NM_001017989.3(OPA3):c.143-22963C>A 350072
Gene:
Type: single nucleotide variant
Location: Chr19: 46055677 - assembly GRCh37
Chr19: 45552419 - assembly GRCh38
References: dbSNP: 148228876
Illumina Clinical Services Laboratory,Illumina: 643213

Condition

Disease: 3-Methylglutaconic aciduria type 3