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Variant (rsID / SNP)

rs140959406

OPA3

rs140959406 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA3. Location: chromosome 19, position 46,032,673. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OPA3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:46032673
Cytoband
19q13.32
HGVS
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
Allele change
Missense_G62S

Associated conditions / phenotypes

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

Public references

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