Variant (rsID / SNP)

rs730880277

rs730880277 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCF. Location: chromosome 11, position 22,647,105. Clinical significance in the table: Pathogenic.

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Reference-table entries

FANCFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 11:22647105
Cytoband: 11p14.3
HGVS: NM_022725.4(FANCF):c.230_252del (p.Val77fs)

Associated conditions / phenotypes

Fanconi anemia complementation group F|Fanconi anemia

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.