Variant (rsID / SNP)

rs372625322

rs372625322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCF. Location: chromosome 11, position 22,647,008. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCFConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 11:22647008
Cytoband: 11p14.3
HGVS: NM_022725.4(FANCF):c.349C>A (p.Pro117Thr)
Allele change: Missense_P117T

Associated conditions / phenotypes

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.