Variant (rsID / SNP)

rs34307082

rs34307082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,336,676. Clinical significance in the table: Benign.

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Reference-table entries

OPA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:193336676
Cytoband: 3q29
HGVS: NM_130837.3(OPA1):c.629C>T (p.Ala210Val)
Allele change: Missense_A174V

Associated conditions / phenotypes

Autosomal dominant optic atrophy classic form

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.