Variant (rsID / SNP)

rs759217526

rs759217526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCL, VRK2. Location: chromosome 2, position 58,386,928. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCLConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Duplication
Chromosome / position: 2:58386928
Cytoband: 2p16.1
HGVS: NM_018062.4(FANCL):c.1096_1099dup (p.Thr367fs)

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group A|Fanconi anemia complementation group L

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.