Variant (rsID / SNP)

rs80356523

rs80356523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA3. Location: chromosome 19, position 46,057,170. Clinical significance in the table: Pathogenic.

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Reference-table entries

OPA3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:46057170
Cytoband: 19q13.32
HGVS: NM_025136.4(OPA3):c.143-1G>C
Allele change: Silent

Associated conditions / phenotypes

3-Methylglutaconic aciduria type 3|3-Methylglutaconic aciduria type 3|Optic atrophy 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.