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Variant (rsID / SNP)

rs145068586

FANCE

rs145068586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCE. Location: chromosome 6, position 35,423,528. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:35423528
Cytoband
6p21.31
HGVS
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)
Allele change
Missense_P85S

Associated conditions / phenotypes

Fanconi anemia complementation group E|Malignant tumor of breast

Public references

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