Variant (rsID / SNP)
rs9282684
rs9282684 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCA. Location: chromosome 16, position 89,849,522. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FANCAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:89849522
- Cytoband
- 16q24.3
- HGVS
- NM_000135.4(FANCA):c.1471-12A>G
- Allele change
- Silent
Associated conditions / phenotypes
Fanconi anemia complementation group A|Fanconi anemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
