Variant (rsID / SNP)

rs148047706

rs148047706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,376,765. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OPA1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:193376765
Cytoband: 3q29
HGVS: NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
Allele change: Synonymous_L771L

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.