Variant (rsID / SNP)

rs45451294

rs45451294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCF. Location: chromosome 11, position 22,646,398. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FANCFBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:22646398
Cytoband: 11p14.3
HGVS: NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)
Allele change: Missense_P320L

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group F

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.