Variant (rsID / SNP)
rs139861334
rs139861334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,360,835. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
OPA1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:193360835
- Cytoband
- 3q29
- HGVS
- NM_130837.3(OPA1):c.1302T>G (p.Pro434=)
- Allele change
- Synonymous_P398P
Associated conditions / phenotypes
Autosomal dominant optic atrophy classic form
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.