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Variant (rsID / SNP)

rs138629441

FANCC

rs138629441 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCC. Location: chromosome 9, position 98,009,786. 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
9:98009786
Cytoband
9q22.32
HGVS
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
Allele change
Missense_V60I

Associated conditions / phenotypes

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