Variant (rsID / SNP)

rs368488165

rs368488165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,332,690. Clinical significance in the table: Uncertain significance.

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Reference-table entries

OPA1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:193332690
Cytoband: 3q29
HGVS: NM_130837.3(OPA1):c.211C>T (p.Arg71Cys)
Allele change: Missense_R71C

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.