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NM_001017989.3(OPA3):c.143-21957A>T AND 3-Methylglutaconic aciduria type 3

Significance: Likely benign
ClinVar: RCV000373269

Variant: NM_001017989.3(OPA3):c.143-21957A>T

Type: Variant
Allele: NM_001017989.3(OPA3):c.143-21957A>T 343860
Gene:
Type: single nucleotide variant
Location: Chr19: 46054671 - assembly GRCh37
Chr19: 45551413 - assembly GRCh38
References: dbSNP: 139606810
Illumina Clinical Services Laboratory,Illumina: 106514

Condition

Disease: 3-Methylglutaconic aciduria type 3