Variant (rsID / SNP)
rs1800347
rs1800347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCA. Location: chromosome 16, position 89,815,049. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
FANCABenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:89815049
- Cytoband
- 16q24.3
- HGVS
- NM_000135.4(FANCA):c.3348+18A>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.