GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_001017989.3(OPA3):c.143-17616A>G AND 3-Methylglutaconic aciduria type 3

Significance: Likely benign
ClinVar: RCV000281208

Variant: NM_001017989.3(OPA3):c.143-17616A>G

Type: Variant
Allele: NM_001017989.3(OPA3):c.143-17616A>G 350023
Gene:
Type: single nucleotide variant
Location: Chr19: 46050330 - assembly GRCh37
Chr19: 45547072 - assembly GRCh38
References: dbSNP: 76825983
Illumina Clinical Services Laboratory,Illumina: 124535

Condition

Disease: 3-Methylglutaconic aciduria type 3