Variant (rsID / SNP)

rs143929819

rs143929819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,409,916. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

OPA1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:193409916
Cytoband: 3q29
HGVS: NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr)
Allele change: Synonymous_X980X

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.