Variant (rsID / SNP)
rs45547534
rs45547534 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM. Location: chromosome 14, position 45,606,387. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
FANCMBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:45606387
- Cytoband
- 14q21.2
- HGVS
- NM_020937.4(FANCM):c.624A>G (p.Ile208Met)
- Allele change
- Missense_I208M
Associated conditions / phenotypes
Fanconi anemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.