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Variant (rsID / SNP)

rs143181565

FANCC

rs143181565 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCC. Location: chromosome 9, position 97,897,654. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:97897654
Cytoband
9q22.32
HGVS
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
Allele change
Missense_E273K

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group C|Fanconi anemia complementation group A|Fanconi anemia|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.