GENETIC ENCYCLOPEDIA
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NM_001017989.3(OPA3):c.143-23636C>T AND 3-Methylglutaconic aciduria type 3

Significance: Likely benign
ClinVar: RCV000280403

Variant: NM_001017989.3(OPA3):c.143-23636C>T

Type: Variant
Allele: NM_001017989.3(OPA3):c.143-23636C>T 349181
Gene:
Type: single nucleotide variant
Location: Chr19: 46056350 - assembly GRCh37
Chr19: 45553092 - assembly GRCh38
References: dbSNP: 116977551
Illumina Clinical Services Laboratory,Illumina: 201476

Condition

Disease: 3-Methylglutaconic aciduria type 3