Variant (rsID / SNP)

rs886041317

rs886041317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,360,552. Clinical significance in the table: Pathogenic.

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Reference-table entries

OPA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:193360552
Cytoband: 3q29
HGVS: NM_130837.3(OPA1):c.1150-2A>G
Allele change: Silent

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.