Variant (rsID / SNP)
rs191680997
rs191680997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDH3B. Location: chromosome 20, position 2,644,565. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
IDH3BConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:2644565
- Cytoband
- 20p13
- HGVS
- NM_006899.5(IDH3B):c.117+6C>A
- Allele change
- Silent
Associated conditions / phenotypes
Retinitis pigmentosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.