Variant (rsID / SNP)
rs55856815
rs55856815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCD2. Location: chromosome 3, position 10,106,539. Clinical significance in the table: Benign.
Reference-table entries
FANCD2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:10106539
- Cytoband
- 3p25.3
- HGVS
- NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=)
- Allele change
- Synonymous_T716T
Associated conditions / phenotypes
Fanconi anemia|Fanconi anemia complementation group D2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
