Variant (rsID / SNP)

rs140088149

rs140088149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCL, VRK2. Location: chromosome 2, position 58,388,714. 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: single nucleotide variant
Chromosome / position: 2:58388714
Cytoband: 2p16.1
HGVS: NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)
Allele change: Missense_D326E

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.