Variant (rsID / SNP)

rs200412464

rs200412464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,380,726. 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: 3:193380726
Cytoband: 3q29
HGVS: NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln)
Allele change: Missense_R843Q

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.